Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.48464953T>ACA2622985546RB1c.2212-45T>A (n.2212-45T>A)
c.194+83510T>A
c.1951-45T>A (n.1951-45T>A)
 gnomAD v4
13g.48464953T>CCA2558564163RB1c.2212-45T>C (n.2212-45T>C)
c.194+83510T>C
c.1951-45T>C (n.1951-45T>C)
13g.48464953T>GCA2622985547RB1c.2212-45T>G (n.2212-45T>G)
c.194+83510T>G
c.1951-45T>G (n.1951-45T>G)
 gnomAD v4
13g.48464956dupCA483559199RB1c.2212-42dup (n.2212-42dup)
c.194+83513dup
c.1951-42dup (n.1951-42dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464954T>CCA2728084198RB1c.2212-44T>C (n.2212-44T>C)
c.194+83511T>C
c.1951-44T>C (n.1951-44T>C)
 dbSNP
13g.48464954T>GCA2622985548RB1c.2212-44T>G (n.2212-44T>G)
c.194+83511T>G
c.1951-44T>G (n.1951-44T>G)
 gnomAD v4
13g.48464956T>CCA2575413745RB1c.2212-42T>C (n.2212-42T>C)
c.194+83513T>C
c.1951-42T>C (n.1951-42T>C)
 gnomAD v4
13g.48464956T=CA2090013604RB1c.2212-42T= (n.2212-42T=)
c.194+83513T=
c.1951-42T= (n.1951-42T=)
13g.48464956_48464957delinsTACA2090013606RB1c.2212-42_2212-41delinsTA (n.2212-42_2212-41delinsTA)
c.194+83513_194+83514delinsTA
c.1951-42_1951-41delinsTA (n.1951-42_1951-41delinsTA)
13g.48464956_48464958delinsTACCA2090013603RB1c.2212-42_2212-40delinsTAC (n.2212-42_2212-40delinsTAC)
c.194+83513_194+83515delinsTAC
c.1951-42_1951-40delinsTAC (n.1951-42_1951-40delinsTAC)
13g.48464957_48464959delCA955793088RB1c.2212-41_2212-39del (n.2212-41_2212-39del)
c.194+83514_194+83516del
c.1951-41_1951-39del (n.1951-41_1951-39del)
 gnomAD v3 gnomAD v4
13g.48464957delCA483559200RB1c.2212-41del (n.2212-41del)
c.194+83514del
c.1951-41del (n.1951-41del)
 dbSNP
13g.48464957A=CA2090013613RB1c.2212-41A= (n.2212-41A=)
c.194+83514A=
c.1951-41A= (n.1951-41A=)
13g.48464957A>CCA609585360RB1c.2212-41A>C (n.2212-41A>C)
c.194+83514A>C
c.1951-41A>C (n.1951-41A>C)
 dbSNP gnomAD v2 gnomAD v4
13g.48464957A>GCA034795RB1c.2212-41A>G (n.2212-41A>G)
c.194+83514A>G
c.1951-41A>G (n.1951-41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464957A>TCA609585361RB1c.2212-41A>T (n.2212-41A>T)
c.194+83514A>T
c.1951-41A>T (n.1951-41A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464957dupCA955793090RB1c.2212-41dup (n.2212-41dup)
c.194+83514dup
c.1951-41dup (n.1951-41dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464957_48464958delCA249310235RB1c.2212-41_2212-40del (n.2212-41_2212-40del)
c.194+83514_194+83515del
c.1951-41_1951-40del (n.1951-41_1951-40del)
 dbSNP gnomAD v3 gnomAD v4
13g.48464957_48464958delinsACCA2090013616RB1c.2212-41_2212-40delinsAC (n.2212-41_2212-40delinsAC)
c.194+83514_194+83515delinsAC
c.1951-41_1951-40delinsAC (n.1951-41_1951-40delinsAC)
13g.48464957_48464959delinsACTCA2090013615RB1c.2212-41_2212-39delinsACT (n.2212-41_2212-39delinsACT)
c.194+83514_194+83516delinsACT
c.1951-41_1951-39delinsACT (n.1951-41_1951-39delinsACT)
13g.48464957_48464958insGCA2622985566RB1c.2212-41_2212-40insG (n.2212-41_2212-40insG)
c.194+83514_194+83515insG
c.1951-41_1951-40insG (n.1951-41_1951-40insG)
 gnomAD v4
13g.48464957_48464958insTCA609585364RB1c.2212-41_2212-40insT (n.2212-41_2212-40insT)
c.194+83514_194+83515insT
c.1951-41_1951-40insT (n.1951-41_1951-40insT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464957_48464958insATCA2622985558RB1c.2212-41_2212-40insAT (n.2212-41_2212-40insAT)
c.194+83514_194+83515insAT
c.1951-41_1951-40insAT (n.1951-41_1951-40insAT)
 gnomAD v4
13g.48464957_48464958insGTCA2622985567RB1c.2212-41_2212-40insGT (n.2212-41_2212-40insGT)
c.194+83514_194+83515insGT
c.1951-41_1951-40insGT (n.1951-41_1951-40insGT)
 gnomAD v4
13g.48464957_48464958insTTCA609585363RB1c.2212-41_2212-40insTT (n.2212-41_2212-40insTT)
c.194+83514_194+83515insTT
c.1951-41_1951-40insTT (n.1951-41_1951-40insTT)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.48464957_48464958insATTCA2622985557RB1c.2212-41_2212-40insATT (n.2212-41_2212-40insATT)
c.194+83514_194+83515insATT
c.1951-41_1951-40insATT (n.1951-41_1951-40insATT)
 gnomAD v4
13g.48464957_48464958insGTTCA2622985568RB1c.2212-41_2212-40insGTT (n.2212-41_2212-40insGTT)
c.194+83514_194+83515insGTT
c.1951-41_1951-40insGTT (n.1951-41_1951-40insGTT)
 gnomAD v4
13g.48464957_48464958insTTTCA2622985562RB1c.2212-41_2212-40insTTT (n.2212-41_2212-40insTTT)
c.194+83514_194+83515insTTT
c.1951-41_1951-40insTTT (n.1951-41_1951-40insTTT)
 gnomAD v4
13g.48464957_48464958insATTTCA2622985556RB1c.2212-41_2212-40insATTT (n.2212-41_2212-40insATTT)
c.194+83514_194+83515insATTT
c.1951-41_1951-40insATTT (n.1951-41_1951-40insATTT)
 gnomAD v4
13g.48464957_48464958insTTTTCA2622985555RB1c.2212-41_2212-40insTTTT (n.2212-41_2212-40insTTTT)
c.194+83514_194+83515insTTTT
c.1951-41_1951-40insTTTT (n.1951-41_1951-40insTTTT)
 gnomAD v4
13g.48464957_48464958insATTTTCA2622985559RB1c.2212-41_2212-40insATTTT (n.2212-41_2212-40insATTTT)
c.194+83514_194+83515insATTTT
c.1951-41_1951-40insATTTT (n.1951-41_1951-40insATTTT)
 gnomAD v4
13g.48464957_48464958insTTTTTCA2622985554RB1c.2212-41_2212-40insTTTTT (n.2212-41_2212-40insTTTTT)
c.194+83514_194+83515insTTTTT
c.1951-41_1951-40insTTTTT (n.1951-41_1951-40insTTTTT)
 gnomAD v4
13g.48464957_48464958insTTTTTTCA955793170RB1c.2212-41_2212-40insTTTTTT (n.2212-41_2212-40insTTTTTT)
c.194+83514_194+83515insTTTTTT
c.1951-41_1951-40insTTTTTT (n.1951-41_1951-40insTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464957_48464958insATTTTTTCA955793171RB1c.2212-41_2212-40insATTTTTT (n.2212-41_2212-40insATTTTTT)
c.194+83514_194+83515insATTTTTT
c.1951-41_1951-40insATTTTTT (n.1951-41_1951-40insATTTTTT)
 gnomAD v3 gnomAD v4
13g.48464957_48464958insTTTTTTTCA2622985553RB1c.2212-41_2212-40insTTTTTTT (n.2212-41_2212-40insTTTTTTT)
c.194+83514_194+83515insTTTTTTT
c.1951-41_1951-40insTTTTTTT (n.1951-41_1951-40insTTTTTTT)
 gnomAD v4
13g.48464957_48464958insATTTTTTTCA2622985560RB1c.2212-41_2212-40insATTTTTTT (n.2212-41_2212-40insATTTTTTT)
c.194+83514_194+83515insATTTTTTT
c.1951-41_1951-40insATTTTTTT (n.1951-41_1951-40insATTTTTTT)
 gnomAD v4
13g.48464957_48464958insTTTTTTTTCA955793172RB1c.2212-41_2212-40insTTTTTTTT (n.2212-41_2212-40insTTTTTTTT)
c.194+83514_194+83515insTTTTTTTT
c.1951-41_1951-40insTTTTTTTT (n.1951-41_1951-40insTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464957_48464958insATTTTTTTTCA2622985561RB1c.2212-41_2212-40insATTTTTTTT (n.2212-41_2212-40insATTTTTTTT)
c.194+83514_194+83515insATTTTTTTT
c.1951-41_1951-40insATTTTTTTT (n.1951-41_1951-40insATTTTTTTT)
 gnomAD v4
13g.48464957_48464958insTTTTTTTTTCA2622985552RB1c.2212-41_2212-40insTTTTTTTTT (n.2212-41_2212-40insTTTTTTTTT)
c.194+83514_194+83515insTTTTTTTTT
c.1951-41_1951-40insTTTTTTTTT (n.1951-41_1951-40insTTTTTTTTT)
 gnomAD v4
13g.48464957_48464958insATTTTTTTTTTCA2622985563RB1c.2212-41_2212-40insATTTTTTTTTT (n.2212-41_2212-40insATTTTTTTTTT)
c.194+83514_194+83515insATTTTTTTTTT
c.1951-41_1951-40insATTTTTTTTTT (n.1951-41_1951-40insATTTTTTTTTT)
 gnomAD v4
13g.48464958delCA483559201RB1c.2212-40del (n.2212-40del)
c.194+83515del
c.1951-40del (n.1951-40del)
 dbSNP gnomAD v3 gnomAD v4
13g.48464958C>ACA955793100RB1c.2212-40C>A (n.2212-40C>A)
c.194+83515C>A
c.1951-40C>A (n.1951-40C>A)
 dbSNP gnomAD v3 gnomAD v4
13g.48464958C=CA2090013625RB1c.2212-40C= (n.2212-40C=)
c.194+83515C=
c.1951-40C= (n.1951-40C=)
13g.48464958C>GCA2622985551RB1c.2212-40C>G (n.2212-40C>G)
c.194+83515C>G
c.1951-40C>G (n.1951-40C>G)
 gnomAD v4
13g.48464958C>TCA249310241RB1c.2212-40C>T (n.2212-40C>T)
c.194+83515C>T
c.1951-40C>T (n.1951-40C>T)
 dbSNP gnomAD v3 gnomAD v4
13g.48464958dupCA2090013631RB1c.2212-40dup (n.2212-40dup)
c.194+83515dup
c.1951-40dup (n.1951-40dup)
 dbSNP
13g.48464958_48464959delCA698685532RB1c.2212-40_2212-39del (n.2212-40_2212-39del)
c.194+83515_194+83516del
c.1951-40_1951-39del (n.1951-40_1951-39del)
 dbSNP gnomAD v3 gnomAD v4
13g.48464958_48464959delinsCTCA2695201959RB1c.2212-40_2212-39delinsCT (n.2212-40_2212-39delinsCT)
c.194+83515_194+83516delinsCT
c.1951-40_1951-39delinsCT (n.1951-40_1951-39delinsCT)
13g.48464958_48464960delCA2622985550RB1c.2212-40_2212-38del (n.2212-40_2212-38del)
c.194+83515_194+83517del
c.1951-40_1951-38del (n.1951-40_1951-38del)
 gnomAD v4
13g.48464958_48464961delCA2622985549RB1c.2212-40_2212-37del (n.2212-40_2212-37del)
c.194+83515_194+83518del
c.1951-40_1951-37del (n.1951-40_1951-37del)
 gnomAD v4
13g.48464958_48464962delCA2799108416RB1c.2212-40_2212-36del (n.2212-40_2212-36del)
c.194+83515_194+83519del
c.1951-40_1951-36del (n.1951-40_1951-36del)
13g.48464958_48464971dupCA2622985564RB1c.2212-40_2212-27dup (n.2212-40_2212-27dup)
c.194+83515_194+83528dup
c.1951-40_1951-27dup (n.1951-40_1951-27dup)
 gnomAD v4
13g.48464958_48464972delinsCTTTTTTTTTTTTTTCA2090013629RB1c.2212-40_2212-26delinsCTTTTTTTTTTTTTT (n.2212-40_2212-26delinsCTTTTTTTTTTTTTT)
c.194+83515_194+83529delinsCTTTTTTTTTTTTTT
c.1951-40_1951-26delinsCTTTTTTTTTTTTTT (n.1951-40_1951-26delinsCTTTTTTTTTTTTTT)
13g.48464958_48464972dupCA2622985565RB1c.2212-40_2212-26dup (n.2212-40_2212-26dup)
c.194+83515_194+83529dup
c.1951-40_1951-26dup (n.1951-40_1951-26dup)
 gnomAD v4
13g.48464958_48464959insATCA2622985590RB1c.2212-40_2212-39insAT (n.2212-40_2212-39insAT)
c.194+83515_194+83516insAT
c.1951-40_1951-39insAT (n.1951-40_1951-39insAT)
 gnomAD v4
13g.48464959T>ACA955793292RB1c.2212-39T>A (n.2212-39T>A)
c.194+83516T>A
c.1951-39T>A (n.1951-39T>A)
 dbSNP gnomAD v3 gnomAD v4
13g.48464959T>CCA2090013721RB1c.2212-39T>C (n.2212-39T>C)
c.194+83516T>C
c.1951-39T>C (n.1951-39T>C)
 dbSNP
13g.48464959T>GCA2622985579RB1c.2212-39T>G (n.2212-39T>G)
c.194+83516T>G
c.1951-39T>G (n.1951-39T>G)
 gnomAD v4
13g.48464959T=CA2090013714RB1c.2212-39T= (n.2212-39T=)
c.194+83516T=
c.1951-39T= (n.1951-39T=)
13g.48464959_48464960insATCA2622985589RB1c.2212-39_2212-38insAT (n.2212-39_2212-38insAT)
c.194+83516_194+83517insAT
c.1951-39_1951-38insAT (n.1951-39_1951-38insAT)
 gnomAD v4
13g.48464959_48464960insATTGTTTTTTCA2622985588RB1c.2212-39_2212-38insATTGTTTTTT (n.2212-39_2212-38insATTGTTTTTT)
c.194+83516_194+83517insATTGTTTTTT
c.1951-39_1951-38insATTGTTTTTT (n.1951-39_1951-38insATTGTTTTTT)
 gnomAD v4
13g.48464959_48464960insATTTTTTTTTCA2622985587RB1c.2212-39_2212-38insATTTTTTTTT (n.2212-39_2212-38insATTTTTTTTT)
c.194+83516_194+83517insATTTTTTTTT
c.1951-39_1951-38insATTTTTTTTT (n.1951-39_1951-38insATTTTTTTTT)
 gnomAD v4
13g.48464960_48464961insCTTTCA2575413767RB1c.2212-38_2212-37insCTTT (n.2212-38_2212-37insCTTT)
c.194+83517_194+83518insCTTT
c.1951-38_1951-37insCTTT (n.1951-38_1951-37insCTTT)
13g.48464961_48464962insATTTTTCA955793307RB1c.2212-37_2212-36insATTTTT (n.2212-37_2212-36insATTTTT)
c.194+83518_194+83519insATTTTT
c.1951-37_1951-36insATTTTT (n.1951-37_1951-36insATTTTT)
 gnomAD v3 gnomAD v4
13g.48464962_48464963insCTTTTTCA2592873331RB1c.2212-36_2212-35insCTTTTT (n.2212-36_2212-35insCTTTTT)
c.194+83519_194+83520insCTTTTT
c.1951-36_1951-35insCTTTTT (n.1951-36_1951-35insCTTTTT)
 gnomAD v3 gnomAD v4
13g.48464962_48464963insATTTTTTTTCA2622985581RB1c.2212-36_2212-35insATTTTTTTT (n.2212-36_2212-35insATTTTTTTT)
c.194+83519_194+83520insATTTTTTTT
c.1951-36_1951-35insATTTTTTTT (n.1951-36_1951-35insATTTTTTTT)
 gnomAD v4
13g.48464963_48464964insCTTTTTTCA955793319RB1c.2212-35_2212-34insCTTTTTT (n.2212-35_2212-34insCTTTTTT)
c.194+83520_194+83521insCTTTTTT
c.1951-35_1951-34insCTTTTTT (n.1951-35_1951-34insCTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464963_48464964insATTTTTTTTTTTTCA2622985585RB1c.2212-35_2212-34insATTTTTTTTTTTT (n.2212-35_2212-34insATTTTTTTTTTTT)
c.194+83520_194+83521insATTTTTTTTTTTT
c.1951-35_1951-34insATTTTTTTTTTTT (n.1951-35_1951-34insATTTTTTTTTTTT)
 gnomAD v4
13g.48464964_48464965insGTTTTTTTTTCA2799108440RB1c.2212-34_2212-33insGTTTTTTTTT (n.2212-34_2212-33insGTTTTTTTTT)
c.194+83521_194+83522insGTTTTTTTTT
c.1951-34_1951-33insGTTTTTTTTT (n.1951-34_1951-33insGTTTTTTTTT)
13g.48464965_48464966insCTTTTTTTTCA955793627RB1c.2212-33_2212-32insCTTTTTTTT (n.2212-33_2212-32insCTTTTTTTT)
c.194+83522_194+83523insCTTTTTTTT
c.1951-33_1951-32insCTTTTTTTT (n.1951-33_1951-32insCTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464965_48464966insATTTTTTTTTCA2799108441RB1c.2212-33_2212-32insATTTTTTTTT (n.2212-33_2212-32insATTTTTTTTT)
c.194+83522_194+83523insATTTTTTTTT
c.1951-33_1951-32insATTTTTTTTT (n.1951-33_1951-32insATTTTTTTTT)
13g.48464965_48464966insGTGTTTTTTTCA955793629RB1c.2212-33_2212-32insGTGTTTTTTT (n.2212-33_2212-32insGTGTTTTTTT)
c.194+83522_194+83523insGTGTTTTTTT
c.1951-33_1951-32insGTGTTTTTTT (n.1951-33_1951-32insGTGTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464966_48464967insATTTTTTTTCA2622985584RB1c.2212-32_2212-31insATTTTTTTT (n.2212-32_2212-31insATTTTTTTT)
c.194+83523_194+83524insATTTTTTTT
c.1951-32_1951-31insATTTTTTTT (n.1951-32_1951-31insATTTTTTTT)
 gnomAD v4
13g.48464967_48464968insATTTTTTTTTTCA2622985583RB1c.2212-31_2212-30insATTTTTTTTTT (n.2212-31_2212-30insATTTTTTTTTT)
c.194+83524_194+83525insATTTTTTTTTT
c.1951-31_1951-30insATTTTTTTTTT (n.1951-31_1951-30insATTTTTTTTTT)
 gnomAD v4
13g.48464967_48464968insATTTTTTTTTTTCA955793642RB1c.2212-31_2212-30insATTTTTTTTTTT (n.2212-31_2212-30insATTTTTTTTTTT)
c.194+83524_194+83525insATTTTTTTTTTT
c.1951-31_1951-30insATTTTTTTTTTT (n.1951-31_1951-30insATTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464968_48464969insATTTTTTTTTTTTTCA2622985582RB1c.2212-30_2212-29insATTTTTTTTTTTTT (n.2212-30_2212-29insATTTTTTTTTTTTT)
c.194+83525_194+83526insATTTTTTTTTTTTT
c.1951-30_1951-29insATTTTTTTTTTTTT (n.1951-30_1951-29insATTTTTTTTTTTTT)
 gnomAD v4
13g.48464969_48464970insATTTTTTTTTTTTTTCA2622985591RB1c.2212-29_2212-28insATTTTTTTTTTTTTT (n.2212-29_2212-28insATTTTTTTTTTTTTT)
c.194+83526_194+83527insATTTTTTTTTTTTTT
c.1951-29_1951-28insATTTTTTTTTTTTTT (n.1951-29_1951-28insATTTTTTTTTTTTTT)
 gnomAD v4
13g.48464971_48464972insATTTTTTTTTTTTTTTCA955793683RB1c.2212-27_2212-26insATTTTTTTTTTTTTTT (n.2212-27_2212-26insATTTTTTTTTTTTTTT)
c.194+83528_194+83529insATTTTTTTTTTTTTTT
c.1951-27_1951-26insATTTTTTTTTTTTTTT (n.1951-27_1951-26insATTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464972_48464973insATTTTTTTTTTTTTTTTTTCA2622985592RB1c.2212-26_2212-25insATTTTTTTTTTTTTTTTTT (n.2212-26_2212-25insATTTTTTTTTTTTTTTTTT)
c.194+83529_194+83530insATTTTTTTTTTTTTTTTTT
c.1951-26_1951-25insATTTTTTTTTTTTTTTTTT (n.1951-26_1951-25insATTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464981_48464982insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2799108444RB1c.2212-17_2212-16insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-17_2212-16insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83538_194+83539insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-17_1951-16insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-17_1951-16insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTCA955793239RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793241RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985578RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985577RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985576RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985575RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793248RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985569RB1c.2212-16_2212-15insTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985574RB1c.2212-16_2212-15insTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985573RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793250RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793251RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTCA2799108432RB1c.2212-16_2212-15insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT)
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793252RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793255RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793258RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793260RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA2799108428RB1c.2212-16_2212-15insTTTGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTGTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793263RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793265RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985572RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985571RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA955793267RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793270RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985570RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2799108430RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2799108429RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
13g.48464982_48464983insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622985586RB1c.2212-16_2212-15insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982dupCA6978905RB1c.2212-16dup (n.2212-16dup)
c.194+83539dup
c.1951-16dup (n.1951-16dup)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
13g.48464981_48464982dupCA6978904RB1c.2212-17_2212-16dup (n.2212-17_2212-16dup)
c.194+83538_194+83539dup
c.1951-17_1951-16dup (n.1951-17_1951-16dup)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
13g.48464980_48464982dupCA6978907RB1c.2212-18_2212-16dup (n.2212-18_2212-16dup)
c.194+83537_194+83539dup
c.1951-18_1951-16dup (n.1951-18_1951-16dup)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
13g.48464979_48464982dupCA955793308RB1c.2212-19_2212-16dup (n.2212-19_2212-16dup)
c.194+83536_194+83539dup
c.1951-19_1951-16dup (n.1951-19_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464978_48464982dupCA955793315RB1c.2212-20_2212-16dup (n.2212-20_2212-16dup)
c.194+83535_194+83539dup
c.1951-20_1951-16dup (n.1951-20_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464977_48464982dupCA955793623RB1c.2212-21_2212-16dup (n.2212-21_2212-16dup)
c.194+83534_194+83539dup
c.1951-21_1951-16dup (n.1951-21_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464976_48464982dupCA955793279RB1c.2212-22_2212-16dup (n.2212-22_2212-16dup)
c.194+83533_194+83539dup
c.1951-22_1951-16dup (n.1951-22_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464975_48464982dupCA955793631RB1c.2212-23_2212-16dup (n.2212-23_2212-16dup)
c.194+83532_194+83539dup
c.1951-23_1951-16dup (n.1951-23_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464974_48464982dupCA955793635RB1c.2212-24_2212-16dup (n.2212-24_2212-16dup)
c.194+83531_194+83539dup
c.1951-24_1951-16dup (n.1951-24_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464973_48464982dupCA955793649RB1c.2212-25_2212-16dup (n.2212-25_2212-16dup)
c.194+83530_194+83539dup
c.1951-25_1951-16dup (n.1951-25_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464972_48464982dupCA955793644RB1c.2212-26_2212-16dup (n.2212-26_2212-16dup)
c.194+83529_194+83539dup
c.1951-26_1951-16dup (n.1951-26_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464971_48464982dupCA955793702RB1c.2212-27_2212-16dup (n.2212-27_2212-16dup)
c.194+83528_194+83539dup
c.1951-27_1951-16dup (n.1951-27_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464970_48464982dupCA955793689RB1c.2212-28_2212-16dup (n.2212-28_2212-16dup)
c.194+83527_194+83539dup
c.1951-28_1951-16dup (n.1951-28_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464969_48464982dupCA915948568RB1c.2212-29_2212-16dup (n.2212-29_2212-16dup)
c.194+83526_194+83539dup
c.1951-29_1951-16dup (n.1951-29_1951-16dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464968_48464982dupCA955793677RB1c.2212-30_2212-16dup (n.2212-30_2212-16dup)
c.194+83525_194+83539dup
c.1951-30_1951-16dup (n.1951-30_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464967_48464982dupCA955793675RB1c.2212-31_2212-16dup (n.2212-31_2212-16dup)
c.194+83524_194+83539dup
c.1951-31_1951-16dup (n.1951-31_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464966_48464982dupCA955793668RB1c.2212-32_2212-16dup (n.2212-32_2212-16dup)
c.194+83523_194+83539dup
c.1951-32_1951-16dup (n.1951-32_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464965_48464982dupCA955793664RB1c.2212-33_2212-16dup (n.2212-33_2212-16dup)
c.194+83522_194+83539dup
c.1951-33_1951-16dup (n.1951-33_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464964_48464982dupCA955793661RB1c.2212-34_2212-16dup (n.2212-34_2212-16dup)
c.194+83521_194+83539dup
c.1951-34_1951-16dup (n.1951-34_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464963_48464982dupCA955793658RB1c.2212-35_2212-16dup (n.2212-35_2212-16dup)
c.194+83520_194+83539dup
c.1951-35_1951-16dup (n.1951-35_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464962_48464982dupCA955793654RB1c.2212-36_2212-16dup (n.2212-36_2212-16dup)
c.194+83519_194+83539dup
c.1951-36_1951-16dup (n.1951-36_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464961_48464982dupCA915948569RB1c.2212-37_2212-16dup (n.2212-37_2212-16dup)
c.194+83518_194+83539dup
c.1951-37_1951-16dup (n.1951-37_1951-16dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464960_48464982dupCA955793298RB1c.2212-38_2212-16dup (n.2212-38_2212-16dup)
c.194+83517_194+83539dup
c.1951-38_1951-16dup (n.1951-38_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464959_48464982dupCA955793274RB1c.2212-39_2212-16dup (n.2212-39_2212-16dup)
c.194+83516_194+83539dup
c.1951-39_1951-16dup (n.1951-39_1951-16dup)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982delCA249310252RB1c.2212-16del (n.2212-16del)
c.194+83539del
c.1951-16del (n.1951-16del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464981_48464982delCA698685579RB1c.2212-17_2212-16del (n.2212-17_2212-16del)
c.194+83538_194+83539del
c.1951-17_1951-16del (n.1951-17_1951-16del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464980_48464982delCA698685573RB1c.2212-18_2212-16del (n.2212-18_2212-16del)
c.194+83537_194+83539del
c.1951-18_1951-16del (n.1951-18_1951-16del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464979_48464982delCA698685561RB1c.2212-19_2212-16del (n.2212-19_2212-16del)
c.194+83536_194+83539del
c.1951-19_1951-16del (n.1951-19_1951-16del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464978_48464982delCA698685570RB1c.2212-20_2212-16del (n.2212-20_2212-16del)
c.194+83535_194+83539del
c.1951-20_1951-16del (n.1951-20_1951-16del)
 dbSNP gnomAD v3 gnomAD v4
13g.48464977_48464982delCA483559202RB1c.2212-21_2212-16del (n.2212-21_2212-16del)
c.194+83534_194+83539del
c.1951-21_1951-16del (n.1951-21_1951-16del)
 dbSNP gnomAD v3 gnomAD v4
13g.48464976_48464982delCA6978906RB1c.2212-22_2212-16del (n.2212-22_2212-16del)
c.194+83533_194+83539del
c.1951-22_1951-16del (n.1951-22_1951-16del)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
13g.48464975_48464982delCA6978903RB1c.2212-23_2212-16del (n.2212-23_2212-16del)
c.194+83532_194+83539del
c.1951-23_1951-16del (n.1951-23_1951-16del)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
13g.48464974_48464982delCA2575413759RB1c.2212-24_2212-16del (n.2212-24_2212-16del)
c.194+83531_194+83539del
c.1951-24_1951-16del (n.1951-24_1951-16del)
 gnomAD v4
13g.48464973_48464982delCA955793287RB1c.2212-25_2212-16del (n.2212-25_2212-16del)
c.194+83530_194+83539del
c.1951-25_1951-16del (n.1951-25_1951-16del)
 gnomAD v3 gnomAD v4
13g.48464972_48464982delCA2622985580RB1c.2212-26_2212-16del (n.2212-26_2212-16del)
c.194+83529_194+83539del
c.1951-26_1951-16del (n.1951-26_1951-16del)
 gnomAD v4
13g.48464971_48464982delCA645571631RB1c.2212-27_2212-16del (n.2212-27_2212-16del)
c.194+83528_194+83539del
c.1951-27_1951-16del (n.1951-27_1951-16del)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.48464970_48464982delCA034709RB1c.2212-28_2212-16del (n.2212-28_2212-16del)
c.194+83527_194+83539del
c.1951-28_1951-16del (n.1951-28_1951-16del)
 dbSNP ExAC gnomAD v3 gnomAD v4
13g.48464969_48464982delCA955793289RB1c.2212-29_2212-16del (n.2212-29_2212-16del)
c.194+83526_194+83539del
c.1951-29_1951-16del (n.1951-29_1951-16del)
 dbSNP gnomAD v3 gnomAD v4
13g.48464959_48464960insACA609585365RB1c.2212-39_2212-38insA (n.2212-39_2212-38insA)
c.194+83516_194+83517insA
c.1951-39_1951-38insA (n.1951-39_1951-38insA)
 gnomAD v2
13g.48464959_48464960insCCA2554985903RB1c.2212-39_2212-38insC (n.2212-39_2212-38insC)
c.194+83516_194+83517insC
c.1951-39_1951-38insC (n.1951-39_1951-38insC)
13g.48464959_48464960insGCA2090013762RB1c.2212-39_2212-38insG (n.2212-39_2212-38insG)
c.194+83516_194+83517insG
c.1951-39_1951-38insG (n.1951-39_1951-38insG)
 dbSNP
13g.48464960T>ACA609585370RB1c.2212-38T>A (n.2212-38T>A)
c.194+83517T>A
c.1951-38T>A (n.1951-38T>A)
 dbSNP gnomAD v2 gnomAD v4
13g.48464960T>CCA955793722RB1c.2212-38T>C (n.2212-38T>C)
c.194+83517T>C
c.1951-38T>C (n.1951-38T>C)
 gnomAD v3 gnomAD v4
13g.48464960T>GCA034696RB1c.2212-38T>G (n.2212-38T>G)
c.194+83517T>G
c.1951-38T>G (n.1951-38T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48464960T=CA2090013764RB1c.2212-38T= (n.2212-38T=)
c.194+83517T=
c.1951-38T= (n.1951-38T=)
13g.48464967_48464968insATTTTTTTTCA2622985595RB1c.2212-31_2212-30insATTTTTTTT (n.2212-31_2212-30insATTTTTTTT)
c.194+83524_194+83525insATTTTTTTT
c.1951-31_1951-30insATTTTTTTT (n.1951-31_1951-30insATTTTTTTT)
 gnomAD v4
13g.48464973_48464974insATTTTTTTTTTTTTTCA609585367RB1c.2212-25_2212-24insATTTTTTTTTTTTTT (n.2212-25_2212-24insATTTTTTTTTTTTTT)
c.194+83530_194+83531insATTTTTTTTTTTTTT
c.1951-25_1951-24insATTTTTTTTTTTTTT (n.1951-25_1951-24insATTTTTTTTTTTTTT)
 dbSNP gnomAD v2
13g.48464981_48464982insATTTTTTTTTTTTTTTTTTTTTTCA2622985593RB1c.2212-17_2212-16insATTTTTTTTTTTTTTTTTTTTTT (n.2212-17_2212-16insATTTTTTTTTTTTTTTTTTTTTT)
c.194+83538_194+83539insATTTTTTTTTTTTTTTTTTTTTT
c.1951-17_1951-16insATTTTTTTTTTTTTTTTTTTTTT (n.1951-17_1951-16insATTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTCA609585368RB1c.2212-16_2212-15insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v2 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTCA2622985594RB1c.2212-16_2212-15insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48464961T>ACA2622985596RB1c.2212-37T>A (n.2212-37T>A)
c.194+83518T>A
c.1951-37T>A (n.1951-37T>A)
 gnomAD v4
13g.48464961T>CCA955793723RB1c.2212-37T>C (n.2212-37T>C)
c.194+83518T>C
c.1951-37T>C (n.1951-37T>C)
 dbSNP gnomAD v3 gnomAD v4
13g.48464961T>GCA2090013770RB1c.2212-37T>G (n.2212-37T>G)
c.194+83518T>G
c.1951-37T>G (n.1951-37T>G)
 dbSNP
13g.48464961T=CA2090013769RB1c.2212-37T= (n.2212-37T=)
c.194+83518T=
c.1951-37T= (n.1951-37T=)
13g.48464962T>ACA2622985597RB1c.2212-36T>A (n.2212-36T>A)
c.194+83519T>A
c.1951-36T>A (n.1951-36T>A)
 gnomAD v4
13g.48464962T>CCA2622985598RB1c.2212-36T>C (n.2212-36T>C)
c.194+83519T>C
c.1951-36T>C (n.1951-36T>C)
 gnomAD v4
13g.48464962_48464963insACCA2728084200RB1c.2212-36_2212-35insAC (n.2212-36_2212-35insAC)
c.194+83519_194+83520insAC
c.1951-36_1951-35insAC (n.1951-36_1951-35insAC)
 dbSNP
13g.48464963T>ACA2622985599RB1c.2212-35T>A (n.2212-35T>A)
c.194+83520T>A
c.1951-35T>A (n.1951-35T>A)
 gnomAD v4
13g.48464963T>CCA2622985600RB1c.2212-35T>C (n.2212-35T>C)
c.194+83520T>C
c.1951-35T>C (n.1951-35T>C)
 gnomAD v4
13g.48464963_48464964insATCA2799108448RB1c.2212-35_2212-34insAT (n.2212-35_2212-34insAT)
c.194+83520_194+83521insAT
c.1951-35_1951-34insAT (n.1951-35_1951-34insAT)
13g.48464963_48464964insACCA2728084204RB1c.2212-35_2212-34insAC (n.2212-35_2212-34insAC)
c.194+83520_194+83521insAC
c.1951-35_1951-34insAC (n.1951-35_1951-34insAC)
 dbSNP
13g.48464964T>ACA2622985601RB1c.2212-34T>A (n.2212-34T>A)
c.194+83521T>A
c.1951-34T>A (n.1951-34T>A)
 gnomAD v4
13g.48464964T>CCA034678RB1c.2212-34T>C (n.2212-34T>C)
c.194+83521T>C
c.1951-34T>C (n.1951-34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48464964T=CA2090013772RB1c.2212-34T= (n.2212-34T=)
c.194+83521T=
c.1951-34T= (n.1951-34T=)
13g.48464965T>ACA2622985602RB1c.2212-33T>A (n.2212-33T>A)
c.194+83522T>A
c.1951-33T>A (n.1951-33T>A)
 gnomAD v4
13g.48464965T>CCA609929412RB1c.2212-33T>C (n.2212-33T>C)
c.194+83522T>C
c.1951-33T>C (n.1951-33T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464965T=CA2090013774RB1c.2212-33T= (n.2212-33T=)
c.194+83522T=
c.1951-33T= (n.1951-33T=)
13g.48464966T>CCA609929413RB1c.2212-32T>C (n.2212-32T>C)
c.194+83523T>C
c.1951-32T>C (n.1951-32T>C)
 dbSNP gnomAD v2 gnomAD v4
13g.48464966T=CA2090013776RB1c.2212-32T= (n.2212-32T=)
c.194+83523T=
c.1951-32T= (n.1951-32T=)
13g.48464966_48464967insCCA2090013778RB1c.2212-32_2212-31insC (n.2212-32_2212-31insC)
c.194+83523_194+83524insC
c.1951-32_1951-31insC (n.1951-32_1951-31insC)
 dbSNP
13g.48464967T>ACA2622985603RB1c.2212-31T>A (n.2212-31T>A)
c.194+83524T>A
c.1951-31T>A (n.1951-31T>A)
 gnomAD v4
13g.48464967T>CCA609929414RB1c.2212-31T>C (n.2212-31T>C)
c.194+83524T>C
c.1951-31T>C (n.1951-31T>C)
 dbSNP gnomAD v2 gnomAD v4
13g.48464967T=CA2090013779RB1c.2212-31T= (n.2212-31T=)
c.194+83524T=
c.1951-31T= (n.1951-31T=)
13g.48464967_48464968insCCA2799108449RB1c.2212-31_2212-30insC (n.2212-31_2212-30insC)
c.194+83524_194+83525insC
c.1951-31_1951-30insC (n.1951-31_1951-30insC)
13g.48464968T>ACA2524859205RB1c.2212-30T>A (n.2212-30T>A)
c.194+83525T>A
c.1951-30T>A (n.1951-30T>A)
13g.48464968T>CCA2622985604RB1c.2212-30T>C (n.2212-30T>C)
c.194+83525T>C
c.1951-30T>C (n.1951-30T>C)
 gnomAD v4
13g.48464968_48464969insGTCA2799108450RB1c.2212-30_2212-29insGT (n.2212-30_2212-29insGT)
c.194+83525_194+83526insGT
c.1951-30_1951-29insGT (n.1951-30_1951-29insGT)
13g.48464981_48464982insATTTTTTTTTTTTTTCA2799108451RB1c.2212-17_2212-16insATTTTTTTTTTTTTT (n.2212-17_2212-16insATTTTTTTTTTTTTT)
c.194+83538_194+83539insATTTTTTTTTTTTTT
c.1951-17_1951-16insATTTTTTTTTTTTTT (n.1951-17_1951-16insATTTTTTTTTTTTTT)
13g.48464982_48464983insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTCA955793725RB1c.2212-16_2212-15insTTTTTTTTTTTTTCTTTTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTCTTTTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTCTTTTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTCTTTTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTCTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464969T>CCA2622985606RB1c.2212-29T>C (n.2212-29T>C)
c.194+83526T>C
c.1951-29T>C (n.1951-29T>C)
 gnomAD v4
13g.48464969T=CA2090013781RB1c.2212-29T= (n.2212-29T=)
c.194+83526T=
c.1951-29T= (n.1951-29T=)
13g.48464982_48464983insTTATTTTTTTTTTTTTTCA2622985605RB1c.2212-16_2212-15insTTATTTTTTTTTTTTTT (n.2212-16_2212-15insTTATTTTTTTTTTTTTT)
c.194+83539_194+83540insTTATTTTTTTTTTTTTT
c.1951-16_1951-15insTTATTTTTTTTTTTTTT (n.1951-16_1951-15insTTATTTTTTTTTTTTTT)
 gnomAD v4
13g.48464970T>CCA2622985608RB1c.2212-28T>C (n.2212-28T>C)
c.194+83527T>C
c.1951-28T>C (n.1951-28T>C)
 gnomAD v4
13g.48464970T>GCA609929416RB1c.2212-28T>G (n.2212-28T>G)
c.194+83527T>G
c.1951-28T>G (n.1951-28T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464970T=CA2090013784RB1c.2212-28T= (n.2212-28T=)
c.194+83527T=
c.1951-28T= (n.1951-28T=)
13g.48464982_48464983insTATTTTTTTTTTTTTCA2622985607RB1c.2212-16_2212-15insTATTTTTTTTTTTTT (n.2212-16_2212-15insTATTTTTTTTTTTTT)
c.194+83539_194+83540insTATTTTTTTTTTTTT
c.1951-16_1951-15insTATTTTTTTTTTTTT (n.1951-16_1951-15insTATTTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTCTTTTTTTTTTTTTCA609929415RB1c.2212-16_2212-15insTCTTTTTTTTTTTTT (n.2212-16_2212-15insTCTTTTTTTTTTTTT)
c.194+83539_194+83540insTCTTTTTTTTTTTTT
c.1951-16_1951-15insTCTTTTTTTTTTTTT (n.1951-16_1951-15insTCTTTTTTTTTTTTT)
 dbSNP gnomAD v2
13g.48464971T>CCA2622985611RB1c.2212-27T>C (n.2212-27T>C)
c.194+83528T>C
c.1951-27T>C (n.1951-27T>C)
 gnomAD v4
13g.48464982_48464983insTATTTTTTTTTTTTCA955793728RB1c.2212-16_2212-15insTATTTTTTTTTTTT (n.2212-16_2212-15insTATTTTTTTTTTTT)
c.194+83539_194+83540insTATTTTTTTTTTTT
c.1951-16_1951-15insTATTTTTTTTTTTT (n.1951-16_1951-15insTATTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTATTTTTTTTTTTTCA2622985609RB1c.2212-16_2212-15insTTATTTTTTTTTTTT (n.2212-16_2212-15insTTATTTTTTTTTTTT)
c.194+83539_194+83540insTTATTTTTTTTTTTT
c.1951-16_1951-15insTTATTTTTTTTTTTT (n.1951-16_1951-15insTTATTTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTCTTTTTTTTTTTTCA2622985610RB1c.2212-16_2212-15insTTTTTTTTTTTCTTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTCTTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTCTTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTCTTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTCTTTTTTTTTTTT)
 gnomAD v4
13g.48464972T>CCA2622985614RB1c.2212-26T>C (n.2212-26T>C)
c.194+83529T>C
c.1951-26T>C (n.1951-26T>C)
 gnomAD v4
13g.48464982_48464983insTATTTTTTTTTTTCA2622985612RB1c.2212-16_2212-15insTATTTTTTTTTTT (n.2212-16_2212-15insTATTTTTTTTTTT)
c.194+83539_194+83540insTATTTTTTTTTTT
c.1951-16_1951-15insTATTTTTTTTTTT (n.1951-16_1951-15insTATTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTGTTTTTTTTTTTCA955793731RB1c.2212-16_2212-15insTTGTTTTTTTTTTT (n.2212-16_2212-15insTTGTTTTTTTTTTT)
c.194+83539_194+83540insTTGTTTTTTTTTTT
c.1951-16_1951-15insTTGTTTTTTTTTTT (n.1951-16_1951-15insTTGTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTCTTTTTTTTTTTCA2622985613RB1c.2212-16_2212-15insTTTTTTTTTTCTTTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTCTTTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTCTTTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTCTTTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTCTTTTTTTTTTT)
 gnomAD v4
13g.48464973T>CCA2622985617RB1c.2212-25T>C (n.2212-25T>C)
c.194+83530T>C
c.1951-25T>C (n.1951-25T>C)
 gnomAD v4
13g.48464982_48464983insTTCTTTTTTTTTTCA2622985615RB1c.2212-16_2212-15insTTCTTTTTTTTTT (n.2212-16_2212-15insTTCTTTTTTTTTT)
c.194+83539_194+83540insTTCTTTTTTTTTT
c.1951-16_1951-15insTTCTTTTTTTTTT (n.1951-16_1951-15insTTCTTTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTATTTTTTTTTTCA2622985616RB1c.2212-16_2212-15insTTTATTTTTTTTTT (n.2212-16_2212-15insTTTATTTTTTTTTT)
c.194+83539_194+83540insTTTATTTTTTTTTT
c.1951-16_1951-15insTTTATTTTTTTTTT (n.1951-16_1951-15insTTTATTTTTTTTTT)
 gnomAD v4
13g.48464974T>CCA2622985618RB1c.2212-24T>C (n.2212-24T>C)
c.194+83531T>C
c.1951-24T>C (n.1951-24T>C)
 gnomAD v4
13g.48464974_48464975insCTCA2622985619RB1c.2212-24_2212-23insCT (n.2212-24_2212-23insCT)
c.194+83531_194+83532insCT
c.1951-24_1951-23insCT (n.1951-24_1951-23insCT)
 gnomAD v4
13g.48464982_48464983insTTCTTTTTTTTTCA2517888777RB1c.2212-16_2212-15insTTCTTTTTTTTT (n.2212-16_2212-15insTTCTTTTTTTTT)
c.194+83539_194+83540insTTCTTTTTTTTT
c.1951-16_1951-15insTTCTTTTTTTTT (n.1951-16_1951-15insTTCTTTTTTTTT)
13g.48464982_48464983insTTTTTTTTTTTTCTTTTTTTTTCA2799108453RB1c.2212-16_2212-15insTTTTTTTTTTTTCTTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTCTTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTCTTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTCTTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTCTTTTTTTTT)
13g.48464975T>ACA2622985627RB1c.2212-23T>A (n.2212-23T>A)
c.194+83532T>A
c.1951-23T>A (n.1951-23T>A)
 gnomAD v4
13g.48464975T>CCA2622985628RB1c.2212-23T>C (n.2212-23T>C)
c.194+83532T>C
c.1951-23T>C (n.1951-23T>C)
 dbSNP gnomAD v4
13g.48464975T=CA2090013788RB1c.2212-23T= (n.2212-23T=)
c.194+83532T=
c.1951-23T= (n.1951-23T=)
13g.48464981_48464982insATTTTTTTCA2622985620RB1c.2212-17_2212-16insATTTTTTT (n.2212-17_2212-16insATTTTTTT)
c.194+83538_194+83539insATTTTTTT
c.1951-17_1951-16insATTTTTTT (n.1951-17_1951-16insATTTTTTT)
 gnomAD v4
13g.48464982_48464983insTATTTTTTTTCA2622985622RB1c.2212-16_2212-15insTATTTTTTTT (n.2212-16_2212-15insTATTTTTTTT)
c.194+83539_194+83540insTATTTTTTTT
c.1951-16_1951-15insTATTTTTTTT (n.1951-16_1951-15insTATTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTGTTTTTTTTCA955793756RB1c.2212-16_2212-15insTGTTTTTTTT (n.2212-16_2212-15insTGTTTTTTTT)
c.194+83539_194+83540insTGTTTTTTTT
c.1951-16_1951-15insTGTTTTTTTT (n.1951-16_1951-15insTGTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTATTTTTTTTCA2622985623RB1c.2212-16_2212-15insTTATTTTTTTT (n.2212-16_2212-15insTTATTTTTTTT)
c.194+83539_194+83540insTTATTTTTTTT
c.1951-16_1951-15insTTATTTTTTTT (n.1951-16_1951-15insTTATTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTCTTTTTTTTCA955793758RB1c.2212-16_2212-15insTTCTTTTTTTT (n.2212-16_2212-15insTTCTTTTTTTT)
c.194+83539_194+83540insTTCTTTTTTTT
c.1951-16_1951-15insTTCTTTTTTTT (n.1951-16_1951-15insTTCTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTCTTTTTTTTCA2622985624RB1c.2212-16_2212-15insTTTCTTTTTTTT (n.2212-16_2212-15insTTTCTTTTTTTT)
c.194+83539_194+83540insTTTCTTTTTTTT
c.1951-16_1951-15insTTTCTTTTTTTT (n.1951-16_1951-15insTTTCTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTCTTTTTTTTCA955793757RB1c.2212-16_2212-15insTTTTTTTTCTTTTTTTT (n.2212-16_2212-15insTTTTTTTTCTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTCTTTTTTTT
c.1951-16_1951-15insTTTTTTTTCTTTTTTTT (n.1951-16_1951-15insTTTTTTTTCTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTCTTTTTTTTCA2622985625RB1c.2212-16_2212-15insTTTTTTTTTCTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTCTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTCTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTCTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTCTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTCTTTTTTTTCA2622985626RB1c.2212-16_2212-15insTTTTTTTTTTCTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTCTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTCTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTCTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTCTTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTCTTTTTTTTCA2799108454RB1c.2212-16_2212-15insTTTTTTTTTTTTTCTTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTTTCTTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTTTCTTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTTTCTTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTTTCTTTTTTTT)
13g.48464975_48464983dupCA2622985621RB1c.2212-23_2212-15dup (n.2212-23_2212-15dup)
c.194+83532_194+83540dup
c.1951-23_1951-15dup (n.1951-23_1951-15dup)
 gnomAD v4
13g.48464975_48464976insACCA955793759RB1c.2212-23_2212-22insAC (n.2212-23_2212-22insAC)
c.194+83532_194+83533insAC
c.1951-23_1951-22insAC (n.1951-23_1951-22insAC)
 gnomAD v3 gnomAD v4
13g.48464976T>ACA955793761RB1c.2212-22T>A (n.2212-22T>A)
c.194+83533T>A
c.1951-22T>A (n.1951-22T>A)
 gnomAD v3 gnomAD v4
13g.48464976T>CCA2622985632RB1c.2212-22T>C (n.2212-22T>C)
c.194+83533T>C
c.1951-22T>C (n.1951-22T>C)
 gnomAD v4
13g.48464981_48464982insCTTTTTTCA955793760RB1c.2212-17_2212-16insCTTTTTT (n.2212-17_2212-16insCTTTTTT)
c.194+83538_194+83539insCTTTTTT
c.1951-17_1951-16insCTTTTTT (n.1951-17_1951-16insCTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464982_48464983insCTTTTTTTCA2537411879RB1c.2212-16_2212-15insCTTTTTTT (n.2212-16_2212-15insCTTTTTTT)
c.194+83539_194+83540insCTTTTTTT
c.1951-16_1951-15insCTTTTTTT (n.1951-16_1951-15insCTTTTTTT)
13g.48464982_48464983insTTATTTTTTTCA2622985629RB1c.2212-16_2212-15insTTATTTTTTT (n.2212-16_2212-15insTTATTTTTTT)
c.194+83539_194+83540insTTATTTTTTT
c.1951-16_1951-15insTTATTTTTTT (n.1951-16_1951-15insTTATTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTCTTTTTTTCA2622985630RB1c.2212-16_2212-15insTTCTTTTTTT (n.2212-16_2212-15insTTCTTTTTTT)
c.194+83539_194+83540insTTCTTTTTTT
c.1951-16_1951-15insTTCTTTTTTT (n.1951-16_1951-15insTTCTTTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTCTTTTTTTCA609929417RB1c.2212-16_2212-15insTTTTTTCTTTTTTT (n.2212-16_2212-15insTTTTTTCTTTTTTT)
c.194+83539_194+83540insTTTTTTCTTTTTTT
c.1951-16_1951-15insTTTTTTCTTTTTTT (n.1951-16_1951-15insTTTTTTCTTTTTTT)
 dbSNP gnomAD v2
13g.48464982_48464983insTTTTTTTCTTTTTTTCA2799108456RB1c.2212-16_2212-15insTTTTTTTCTTTTTTT (n.2212-16_2212-15insTTTTTTTCTTTTTTT)
c.194+83539_194+83540insTTTTTTTCTTTTTTT
c.1951-16_1951-15insTTTTTTTCTTTTTTT (n.1951-16_1951-15insTTTTTTTCTTTTTTT)
13g.48464982_48464983insTTTTTTTTTTTCTTTTTTTCA2622985631RB1c.2212-16_2212-15insTTTTTTTTTTTCTTTTTTT (n.2212-16_2212-15insTTTTTTTTTTTCTTTTTTT)
c.194+83539_194+83540insTTTTTTTTTTTCTTTTTTT
c.1951-16_1951-15insTTTTTTTTTTTCTTTTTTT (n.1951-16_1951-15insTTTTTTTTTTTCTTTTTTT)
 gnomAD v4
13g.48464977T>CCA249310280RB1c.2212-21T>C (n.2212-21T>C)
c.194+83534T>C
c.1951-21T>C (n.1951-21T>C)
 dbSNP gnomAD v4
13g.48464977T=CA2090013792RB1c.2212-21T= (n.2212-21T=)
c.194+83534T=
c.1951-21T= (n.1951-21T=)
13g.48464982_48464983insTTTTGTTTTTTCA2622985634RB1c.2212-16_2212-15insTTTTGTTTTTT (n.2212-16_2212-15insTTTTGTTTTTT)
c.194+83539_194+83540insTTTTGTTTTTT
c.1951-16_1951-15insTTTTGTTTTTT (n.1951-16_1951-15insTTTTGTTTTTT)
 gnomAD v4
13g.48464977_48464983delCA2622985633RB1c.2212-21_2212-15del (n.2212-21_2212-15del)
c.194+83534_194+83540del
c.1951-21_1951-15del (n.1951-21_1951-15del)
 gnomAD v4
13g.48464978T=CA2090013795RB1c.2212-20T= (n.2212-20T=)
c.194+83535T=
c.1951-20T= (n.1951-20T=)
13g.48464982_48464983insTTTATTTTTCA2622985635RB1c.2212-16_2212-15insTTTATTTTT (n.2212-16_2212-15insTTTATTTTT)
c.194+83539_194+83540insTTTATTTTT
c.1951-16_1951-15insTTTATTTTT (n.1951-16_1951-15insTTTATTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTGTTTTTCA2622985636RB1c.2212-16_2212-15insTTTTTGTTTTT (n.2212-16_2212-15insTTTTTGTTTTT)
c.194+83539_194+83540insTTTTTGTTTTT
c.1951-16_1951-15insTTTTTGTTTTT (n.1951-16_1951-15insTTTTTGTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTCTTTTTCA2622985637RB1c.2212-16_2212-15insTTTTTTCTTTTT (n.2212-16_2212-15insTTTTTTCTTTTT)
c.194+83539_194+83540insTTTTTTCTTTTT
c.1951-16_1951-15insTTTTTTCTTTTT (n.1951-16_1951-15insTTTTTTCTTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTCTTTTTCA609929418RB1c.2212-16_2212-15insTTTTTTTTTTCTTTTT (n.2212-16_2212-15insTTTTTTTTTTCTTTTT)
c.194+83539_194+83540insTTTTTTTTTTCTTTTT
c.1951-16_1951-15insTTTTTTTTTTCTTTTT (n.1951-16_1951-15insTTTTTTTTTTCTTTTT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464978_48464979insAACA2622985638RB1c.2212-20_2212-19insAA (n.2212-20_2212-19insAA)
c.194+83535_194+83536insAA
c.1951-20_1951-19insAA (n.1951-20_1951-19insAA)
 gnomAD v4
13g.48464979T>ACA2622985646RB1c.2212-19T>A (n.2212-19T>A)
c.194+83536T>A
c.1951-19T>A (n.1951-19T>A)
 gnomAD v4
13g.48464979T=CA2090013797RB1c.2212-19T= (n.2212-19T=)
c.194+83536T=
c.1951-19T= (n.1951-19T=)
13g.48464979_48464980insATCA2622985639RB1c.2212-19_2212-18insAT (n.2212-19_2212-18insAT)
c.194+83536_194+83537insAT
c.1951-19_1951-18insAT (n.1951-19_1951-18insAT)
 gnomAD v4
13g.48464979_48464980insAATCA2622985640RB1c.2212-19_2212-18insAAT (n.2212-19_2212-18insAAT)
c.194+83536_194+83537insAAT
c.1951-19_1951-18insAAT (n.1951-19_1951-18insAAT)
 gnomAD v4
13g.48464980_48464981insATTCA2622985641RB1c.2212-18_2212-17insATT (n.2212-18_2212-17insATT)
c.194+83537_194+83538insATT
c.1951-18_1951-17insATT (n.1951-18_1951-17insATT)
 gnomAD v4
13g.48464981_48464982insATTTCA2622985642RB1c.2212-17_2212-16insATTT (n.2212-17_2212-16insATTT)
c.194+83538_194+83539insATTT
c.1951-17_1951-16insATTT (n.1951-17_1951-16insATTT)
 gnomAD v4
13g.48464981_48464982insAATTTCA2622985643RB1c.2212-17_2212-16insAATTT (n.2212-17_2212-16insAATTT)
c.194+83538_194+83539insAATTT
c.1951-17_1951-16insAATTT (n.1951-17_1951-16insAATTT)
 gnomAD v4
13g.48464982_48464983insTTCTTTTCA609929419RB1c.2212-16_2212-15insTTCTTTT (n.2212-16_2212-15insTTCTTTT)
c.194+83539_194+83540insTTCTTTT
c.1951-16_1951-15insTTCTTTT (n.1951-16_1951-15insTTCTTTT)
 dbSNP gnomAD v2
13g.48464982_48464983insTTTGTTTTCA2622985644RB1c.2212-16_2212-15insTTTGTTTT (n.2212-16_2212-15insTTTGTTTT)
c.194+83539_194+83540insTTTGTTTT
c.1951-16_1951-15insTTTGTTTT (n.1951-16_1951-15insTTTGTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTCTTTTCA2622985645RB1c.2212-16_2212-15insTTTTTTTTTCTTTT (n.2212-16_2212-15insTTTTTTTTTCTTTT)
c.194+83539_194+83540insTTTTTTTTTCTTTT
c.1951-16_1951-15insTTTTTTTTTCTTTT (n.1951-16_1951-15insTTTTTTTTTCTTTT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTCTTTTCA2525928433RB1c.2212-16_2212-15insTTTTTTTTTTCTTTT (n.2212-16_2212-15insTTTTTTTTTTCTTTT)
c.194+83539_194+83540insTTTTTTTTTTCTTTT
c.1951-16_1951-15insTTTTTTTTTTCTTTT (n.1951-16_1951-15insTTTTTTTTTTCTTTT)
 gnomAD v4
13g.48464979_48464986delinsTTTTACTGCA2090013798RB1c.2212-19_2212-12delinsTTTTACTG (n.2212-19_2212-12delinsTTTTACTG)
c.194+83536_194+83543delinsTTTTACTG
c.1951-19_1951-12delinsTTTTACTG (n.1951-19_1951-12delinsTTTTACTG)
13g.48464979_48464980insACA609929420RB1c.2212-19_2212-18insA (n.2212-19_2212-18insA)
c.194+83536_194+83537insA
c.1951-19_1951-18insA (n.1951-19_1951-18insA)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.48464979_48464980insAACA2622985648RB1c.2212-19_2212-18insAA (n.2212-19_2212-18insAA)
c.194+83536_194+83537insAA
c.1951-19_1951-18insAA (n.1951-19_1951-18insAA)
 gnomAD v4
13g.48464980_48464981insATCA609929421RB1c.2212-18_2212-17insAT (n.2212-18_2212-17insAT)
c.194+83537_194+83538insAT
c.1951-18_1951-17insAT (n.1951-18_1951-17insAT)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.48464980_48464981insAATCA609929422RB1c.2212-18_2212-17insAAT (n.2212-18_2212-17insAAT)
c.194+83537_194+83538insAAT
c.1951-18_1951-17insAAT (n.1951-18_1951-17insAAT)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.48464981_48464982insAATTCA2622985647RB1c.2212-17_2212-16insAATT (n.2212-17_2212-16insAATT)
c.194+83538_194+83539insAATT
c.1951-17_1951-16insAATT (n.1951-17_1951-16insAATT)
 gnomAD v4
13g.48464982_48464983insTTCTTTCA609929423RB1c.2212-16_2212-15insTTCTTT (n.2212-16_2212-15insTTCTTT)
c.194+83539_194+83540insTTCTTT
c.1951-16_1951-15insTTCTTT (n.1951-16_1951-15insTTCTTT)
 gnomAD v2
13g.48464982_48464983insTTTTGTTTCA955793777RB1c.2212-16_2212-15insTTTTGTTT (n.2212-16_2212-15insTTTTGTTT)
c.194+83539_194+83540insTTTTGTTT
c.1951-16_1951-15insTTTTGTTT (n.1951-16_1951-15insTTTTGTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983insTTTTTTTTTCTTTCA955793766RB1c.2212-16_2212-15insTTTTTTTTTCTTT (n.2212-16_2212-15insTTTTTTTTTCTTT)
c.194+83539_194+83540insTTTTTTTTTCTTT
c.1951-16_1951-15insTTTTTTTTTCTTT (n.1951-16_1951-15insTTTTTTTTTCTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464980_48464983delCA2728084873RB1c.2212-18_2212-15del (n.2212-18_2212-15del)
c.194+83537_194+83540del
c.1951-18_1951-15del (n.1951-18_1951-15del)
 dbSNP
13g.48464982_48464988delCA955793775RB1c.2212-16_2212-10del (n.2212-16_2212-10del)
c.194+83539_194+83545del
c.1951-16_1951-10del (n.1951-16_1951-10del)
 dbSNP gnomAD v3 gnomAD v4
13g.48464980_48464981insACA955793789RB1c.2212-18_2212-17insA (n.2212-18_2212-17insA)
c.194+83537_194+83538insA
c.1951-18_1951-17insA (n.1951-18_1951-17insA)
 gnomAD v3 gnomAD v4
13g.48464980_48464981insAACA955793791RB1c.2212-18_2212-17insAA (n.2212-18_2212-17insAA)
c.194+83537_194+83538insAA
c.1951-18_1951-17insAA (n.1951-18_1951-17insAA)
 gnomAD v3 gnomAD v4
13g.48464980_48464981insAGCA2622985649RB1c.2212-18_2212-17insAG (n.2212-18_2212-17insAG)
c.194+83537_194+83538insAG
c.1951-18_1951-17insAG (n.1951-18_1951-17insAG)
 gnomAD v4
13g.48464981T>ACA249310292RB1c.2212-17T>A (n.2212-17T>A)
c.194+83538T>A
c.1951-17T>A (n.1951-17T>A)
 ClinVar dbSNP
13g.48464981T=CA2090013805RB1c.2212-17T= (n.2212-17T=)
c.194+83538T=
c.1951-17T= (n.1951-17T=)
13g.48464981_48464982insATCA2622985650RB1c.2212-17_2212-16insAT (n.2212-17_2212-16insAT)
c.194+83538_194+83539insAT
c.1951-17_1951-16insAT (n.1951-17_1951-16insAT)
 gnomAD v4
13g.48464982_48464983insTTTTTTCTTCA609929425RB1c.2212-16_2212-15insTTTTTTCTT (n.2212-16_2212-15insTTTTTTCTT)
c.194+83539_194+83540insTTTTTTCTT
c.1951-16_1951-15insTTTTTTCTT (n.1951-16_1951-15insTTTTTTCTT)
 gnomAD v2 gnomAD v4
13g.48464981_48464983delCA955793794RB1c.2212-17_2212-15del (n.2212-17_2212-15del)
c.194+83538_194+83540del
c.1951-17_1951-15del (n.1951-17_1951-15del)
 gnomAD v3 gnomAD v4
13g.48464981_48464983delinsTTACA2090013807RB1c.2212-17_2212-15delinsTTA (n.2212-17_2212-15delinsTTA)
c.194+83538_194+83540delinsTTA
c.1951-17_1951-15delinsTTA (n.1951-17_1951-15delinsTTA)
13g.48464982_48464985delCA609929424RB1c.2212-16_2212-13del (n.2212-16_2212-13del)
c.194+83539_194+83542del
c.1951-16_1951-13del (n.1951-16_1951-13del)
 gnomAD v2 gnomAD v4
13g.48464983_48464991delCA955793803RB1c.2212-15_2212-7del (n.2212-15_2212-7del)
c.194+83540_194+83548del
c.1951-15_1951-7del (n.1951-15_1951-7del)
 gnomAD v3 gnomAD v4
13g.48464981_48464982insACA609929426RB1c.2212-17_2212-16insA (n.2212-17_2212-16insA)
c.194+83538_194+83539insA
c.1951-17_1951-16insA (n.1951-17_1951-16insA)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464981_48464982insAATTTTACA2622985654RB1c.2212-17_2212-16insAATTTTA (n.2212-17_2212-16insAATTTTA)
c.194+83538_194+83539insAATTTTA
c.1951-17_1951-16insAATTTTA (n.1951-17_1951-16insAATTTTA)
 gnomAD v4
13g.48464982T>ACA026431RB1c.2212-16T>A (n.2212-16T>A)
c.194+83539T>A
c.1951-16T>A (n.1951-16T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464982T>CCA2575413770RB1c.2212-16T>C (n.2212-16T>C)
c.194+83539T>C
c.1951-16T>C (n.1951-16T>C)
 ClinVar gnomAD v4
13g.48464982T=CA2090013819RB1c.2212-16T= (n.2212-16T=)
c.194+83539T=
c.1951-16T= (n.1951-16T=)
13g.48464982_48464983insTTTCTCA609929427RB1c.2212-16_2212-15insTTTCT (n.2212-16_2212-15insTTTCT)
c.194+83539_194+83540insTTTCT
c.1951-16_1951-15insTTTCT (n.1951-16_1951-15insTTTCT)
 gnomAD v2
13g.48464982_48464983insTCTTTTTTTCCTCA2622985652RB1c.2212-16_2212-15insTCTTTTTTTCCT (n.2212-16_2212-15insTCTTTTTTTCCT)
c.194+83539_194+83540insTCTTTTTTTCCT
c.1951-16_1951-15insTCTTTTTTTCCT (n.1951-16_1951-15insTCTTTTTTTCCT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTCTCA2622985651RB1c.2212-16_2212-15insTTTTTTTTTTCT (n.2212-16_2212-15insTTTTTTTTTTCT)
c.194+83539_194+83540insTTTTTTTTTTCT
c.1951-16_1951-15insTTTTTTTTTTCT (n.1951-16_1951-15insTTTTTTTTTTCT)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTCTCA955793812RB1c.2212-16_2212-15insTTTTTTTTTTTCT (n.2212-16_2212-15insTTTTTTTTTTTCT)
c.194+83539_194+83540insTTTTTTTTTTTCT
c.1951-16_1951-15insTTTTTTTTTTTCT (n.1951-16_1951-15insTTTTTTTTTTTCT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983delCA609929428RB1c.2212-16_2212-15del (n.2212-16_2212-15del)
c.194+83539_194+83540del
c.1951-16_1951-15del (n.1951-16_1951-15del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464982_48464983delinsTACA2090013820RB1c.2212-16_2212-15delinsTA (n.2212-16_2212-15delinsTA)
c.194+83539_194+83540delinsTA
c.1951-16_1951-15delinsTA (n.1951-16_1951-15delinsTA)
13g.48464982_48464983dupCA2622985653RB1c.2212-16_2212-15dup (n.2212-16_2212-15dup)
c.194+83539_194+83540dup
c.1951-16_1951-15dup (n.1951-16_1951-15dup)
 gnomAD v4
13g.48464982_48464984delinsTACCA2090013822RB1c.2212-16_2212-14delinsTAC (n.2212-16_2212-14delinsTAC)
c.194+83539_194+83541delinsTAC
c.1951-16_1951-14delinsTAC (n.1951-16_1951-14delinsTAC)
13g.48464983_48464985delCA955793813RB1c.2212-15_2212-13del (n.2212-15_2212-13del)
c.194+83540_194+83542del
c.1951-15_1951-13del (n.1951-15_1951-13del)
 gnomAD v3 gnomAD v4
13g.48464982_48464986delinsTACTGCA2090013817RB1c.2212-16_2212-12delinsTACTG (n.2212-16_2212-12delinsTACTG)
c.194+83539_194+83543delinsTACTG
c.1951-16_1951-12delinsTACTG (n.1951-16_1951-12delinsTACTG)
13g.48464983_48464987delCA2575413772RB1c.2212-15_2212-11del (n.2212-15_2212-11del)
c.194+83540_194+83544del
c.1951-15_1951-11del (n.1951-15_1951-11del)
 gnomAD v4
13g.48464983_48464990delCA2575413771RB1c.2212-15_2212-8del (n.2212-15_2212-8del)
c.194+83540_194+83547del
c.1951-15_1951-8del (n.1951-15_1951-8del)
13g.48464982_48464983insCCA2090013842RB1c.2212-16_2212-15insC (n.2212-16_2212-15insC)
c.194+83539_194+83540insC
c.1951-16_1951-15insC (n.1951-16_1951-15insC)
 dbSNP
13g.48464982_48464983insTACA698685634RB1c.2212-16_2212-15insTA (n.2212-16_2212-15insTA)
c.194+83539_194+83540insTA
c.1951-16_1951-15insTA (n.1951-16_1951-15insTA)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464982_48464983insTTACA2622985659RB1c.2212-16_2212-15insTTA (n.2212-16_2212-15insTTA)
c.194+83539_194+83540insTTA
c.1951-16_1951-15insTTA (n.1951-16_1951-15insTTA)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTCCA2622985658RB1c.2212-16_2212-15insTTTTTTTTTTTC (n.2212-16_2212-15insTTTTTTTTTTTC)
c.194+83539_194+83540insTTTTTTTTTTTC
c.1951-16_1951-15insTTTTTTTTTTTC (n.1951-16_1951-15insTTTTTTTTTTTC)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTCCA2622985655RB1c.2212-16_2212-15insTTTTTTTTTTTTC (n.2212-16_2212-15insTTTTTTTTTTTTC)
c.194+83539_194+83540insTTTTTTTTTTTTC
c.1951-16_1951-15insTTTTTTTTTTTTC (n.1951-16_1951-15insTTTTTTTTTTTTC)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTCTTACA2622985657RB1c.2212-16_2212-15insTTTTTTTTTTTCTTA (n.2212-16_2212-15insTTTTTTTTTTTCTTA)
c.194+83539_194+83540insTTTTTTTTTTTCTTA
c.1951-16_1951-15insTTTTTTTTTTTCTTA (n.1951-16_1951-15insTTTTTTTTTTTCTTA)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTCTTTACA2622985656RB1c.2212-16_2212-15insTTTTTTTTTTTCTTTA (n.2212-16_2212-15insTTTTTTTTTTTCTTTA)
c.194+83539_194+83540insTTTTTTTTTTTCTTTA
c.1951-16_1951-15insTTTTTTTTTTTCTTTA (n.1951-16_1951-15insTTTTTTTTTTTCTTTA)
 gnomAD v4
13g.48464982_48464983insTTTTTTTTTTTTTTTTTTTTTTACA2799108462RB1c.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTA (n.2212-16_2212-15insTTTTTTTTTTTTTTTTTTTTTTA)
c.194+83539_194+83540insTTTTTTTTTTTTTTTTTTTTTTA
c.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTA (n.1951-16_1951-15insTTTTTTTTTTTTTTTTTTTTTTA)
13g.48464983delCA483740022RB1c.2212-15del (n.2212-15del)
c.194+83540del
c.1951-15del (n.1951-15del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464983A=CA2090013840RB1c.2212-15A= (n.2212-15A=)
c.194+83540A=
c.1951-15A= (n.1951-15A=)
13g.48464983A>CCA609929429RB1c.2212-15A>C (n.2212-15A>C)
c.194+83540A>C
c.1951-15A>C (n.1951-15A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464983A>GCA026430RB1c.2212-15A>G (n.2212-15A>G)
c.194+83540A>G
c.1951-15A>G (n.1951-15A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464983A>TCA034600RB1c.2212-15A>T (n.2212-15A>T)
c.194+83540A>T
c.1951-15A>T (n.1951-15A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464983dupCA6978910RB1c.2212-15dup (n.2212-15dup)
c.194+83540dup
c.1951-15dup (n.1951-15dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464983_48464984delCA6978909RB1c.2212-15_2212-14del (n.2212-15_2212-14del)
c.194+83540_194+83541del
c.1951-15_1951-14del (n.1951-15_1951-14del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464983_48464986delCA6978908RB1c.2212-15_2212-12del (n.2212-15_2212-12del)
c.194+83540_194+83543del
c.1951-15_1951-12del (n.1951-15_1951-12del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464983_48464989delCA955793837RB1c.2212-15_2212-9del (n.2212-15_2212-9del)
c.194+83540_194+83546del
c.1951-15_1951-9del (n.1951-15_1951-9del)
 gnomAD v3 gnomAD v4
13g.48464983_48464984insTTCA2622985665RB1c.2212-15_2212-14insTT (n.2212-15_2212-14insTT)
c.194+83540_194+83541insTT
c.1951-15_1951-14insTT (n.1951-15_1951-14insTT)
 gnomAD v4
13g.48464983_48464984insTTTCA2622985664RB1c.2212-15_2212-14insTTT (n.2212-15_2212-14insTTT)
c.194+83540_194+83541insTTT
c.1951-15_1951-14insTTT (n.1951-15_1951-14insTTT)
 gnomAD v4
13g.48464983_48464984insAATTTCA2799108471RB1c.2212-15_2212-14insAATTT (n.2212-15_2212-14insAATTT)
c.194+83540_194+83541insAATTT
c.1951-15_1951-14insAATTT (n.1951-15_1951-14insAATTT)
13g.48464983_48464984insATTTTCA2799108475RB1c.2212-15_2212-14insATTTT (n.2212-15_2212-14insATTTT)
c.194+83540_194+83541insATTTT
c.1951-15_1951-14insATTTT (n.1951-15_1951-14insATTTT)
13g.48464983_48464984insTTTTTCA609929430RB1c.2212-15_2212-14insTTTTT (n.2212-15_2212-14insTTTTT)
c.194+83540_194+83541insTTTTT
c.1951-15_1951-14insTTTTT (n.1951-15_1951-14insTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.48464983_48464984insTTTTTTTCA955793859RB1c.2212-15_2212-14insTTTTTTT (n.2212-15_2212-14insTTTTTTT)
c.194+83540_194+83541insTTTTTTT
c.1951-15_1951-14insTTTTTTT (n.1951-15_1951-14insTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464983_48464984insTTTTTTTTCA2622985663RB1c.2212-15_2212-14insTTTTTTTT (n.2212-15_2212-14insTTTTTTTT)
c.194+83540_194+83541insTTTTTTTT
c.1951-15_1951-14insTTTTTTTT (n.1951-15_1951-14insTTTTTTTT)
 gnomAD v4
13g.48464983_48464984insTTTTTATATTCA2799108473RB1c.2212-15_2212-14insTTTTTATATT (n.2212-15_2212-14insTTTTTATATT)
c.194+83540_194+83541insTTTTTATATT
c.1951-15_1951-14insTTTTTATATT (n.1951-15_1951-14insTTTTTATATT)
13g.48464983_48464984insTTTTTTTTTTCA2622985662RB1c.2212-15_2212-14insTTTTTTTTTT (n.2212-15_2212-14insTTTTTTTTTT)
c.194+83540_194+83541insTTTTTTTTTT
c.1951-15_1951-14insTTTTTTTTTT (n.1951-15_1951-14insTTTTTTTTTT)
 gnomAD v4
13g.48464983_48464984insTTTTTTTTTTTTTCA2622985666RB1c.2212-15_2212-14insTTTTTTTTTTTTT (n.2212-15_2212-14insTTTTTTTTTTTTT)
c.194+83540_194+83541insTTTTTTTTTTTTT
c.1951-15_1951-14insTTTTTTTTTTTTT (n.1951-15_1951-14insTTTTTTTTTTTTT)
 gnomAD v4
13g.48464984delCA955793849RB1c.2212-14del (n.2212-14del)
c.194+83541del
c.1951-14del (n.1951-14del)
 ClinVar gnomAD v3 gnomAD v4
13g.48464984C>ACA955793853RB1c.2212-14C>A (n.2212-14C>A)
c.194+83541C>A
c.1951-14C>A (n.1951-14C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464984C=CA2090013847RB1c.2212-14C= (n.2212-14C=)
c.194+83541C=
c.1951-14C= (n.1951-14C=)
13g.48464984C>GCA955793850RB1c.2212-14C>G (n.2212-14C>G)
c.194+83541C>G
c.1951-14C>G (n.1951-14C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464984C>TCA034583RB1c.2212-14C>T (n.2212-14C>T)
c.194+83541C>T
c.1951-14C>T (n.1951-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464984_48464986delCA2622985661RB1c.2212-14_2212-12del (n.2212-14_2212-12del)
c.194+83541_194+83543del
c.1951-14_1951-12del (n.1951-14_1951-12del)
 gnomAD v4
13g.48464984_48464989delCA2622985660RB1c.2212-14_2212-9del (n.2212-14_2212-9del)
c.194+83541_194+83546del
c.1951-14_1951-9del (n.1951-14_1951-9del)
 gnomAD v4
13g.48464985delCA2622985668RB1c.2212-13del (n.2212-13del)
c.194+83542del
c.1951-13del (n.1951-13del)
 gnomAD v4
13g.48464985T>ACA2580087662RB1c.2212-13T>A (n.2212-13T>A)
c.194+83542T>A
c.1951-13T>A (n.1951-13T>A)
 ClinVar dbSNP
13g.48464985T>CCA2622985669RB1c.2212-13T>C (n.2212-13T>C)
c.194+83542T>C
c.1951-13T>C (n.1951-13T>C)
 ClinVar dbSNP gnomAD v4
13g.48464985T>GCA2622985670RB1c.2212-13T>G (n.2212-13T>G)
c.194+83542T>G
c.1951-13T>G (n.1951-13T>G)
 gnomAD v4
13g.48464985_48464986insTTCA2622985667RB1c.2212-13_2212-12insTT (n.2212-13_2212-12insTT)
c.194+83542_194+83543insTT
c.1951-13_1951-12insTT (n.1951-13_1951-12insTT)
 gnomAD v4
13g.48464985_48464986insTGTCA955794062RB1c.2212-13_2212-12insTGT (n.2212-13_2212-12insTGT)
c.194+83542_194+83543insTGT
c.1951-13_1951-12insTGT (n.1951-13_1951-12insTGT)
 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTCA609929435RB1c.2212-13_2212-12insTTT (n.2212-13_2212-12insTTT)
c.194+83542_194+83543insTTT
c.1951-13_1951-12insTTT (n.1951-13_1951-12insTTT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTCA609929431RB1c.2212-13_2212-12insTTTT (n.2212-13_2212-12insTTTT)
c.194+83542_194+83543insTTTT
c.1951-13_1951-12insTTTT (n.1951-13_1951-12insTTTT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTCA609929434RB1c.2212-13_2212-12insTTTTT (n.2212-13_2212-12insTTTTT)
c.194+83542_194+83543insTTTTT
c.1951-13_1951-12insTTTTT (n.1951-13_1951-12insTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTCA609929433RB1c.2212-13_2212-12insTTTTTT (n.2212-13_2212-12insTTTTTT)
c.194+83542_194+83543insTTTTTT
c.1951-13_1951-12insTTTTTT (n.1951-13_1951-12insTTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTCA955794021RB1c.2212-13_2212-12insTTTTTTT (n.2212-13_2212-12insTTTTTTT)
c.194+83542_194+83543insTTTTTTT
c.1951-13_1951-12insTTTTTTT (n.1951-13_1951-12insTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTCA915948570RB1c.2212-13_2212-12insTTTTTTTT (n.2212-13_2212-12insTTTTTTTT)
c.194+83542_194+83543insTTTTTTTT
c.1951-13_1951-12insTTTTTTTT (n.1951-13_1951-12insTTTTTTTT)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTTCA955794010RB1c.2212-13_2212-12insTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTTTCA955794115RB1c.2212-13_2212-12insTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTTTTCA955793953RB1c.2212-13_2212-12insTTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTTTTTTCA955793950RB1c.2212-13_2212-12insTTTTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTTTTTTTCA2799108486RB1c.2212-13_2212-12insTTTTTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTTTTTT)
13g.48464985_48464986insTTTTTTTTTTTTTTTTCA609929432RB1c.2212-13_2212-12insTTTTTTTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTTTTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTTTTTTTTTTTCA955793947RB1c.2212-13_2212-12insTTTTTTTTTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTTTTTTTTTT)
13g.48464985_48464986insTTTTTTTTTTTTTTTTTTTTCA955793939RB1c.2212-13_2212-12insTTTTTTTTTTTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTTTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTTTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTTTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTTTTTTTTTTTTTTTTTTCA955793931RB1c.2212-13_2212-12insTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464985_48464986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA955793876RB1c.2212-13_2212-12insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-13_2212-12insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83542_194+83543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-13_1951-12insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-13_1951-12insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
13g.48464985dupCA955794065RB1c.2212-13dup (n.2212-13dup)
c.194+83542dup
c.1951-13dup (n.1951-13dup)
 gnomAD v3 gnomAD v4
13g.48464985_48464986delinsTGCA2090013859RB1c.2212-13_2212-12delinsTG (n.2212-13_2212-12delinsTG)
c.194+83542_194+83543delinsTG
c.1951-13_1951-12delinsTG (n.1951-13_1951-12delinsTG)
13g.48464985_48464986insACA2622985671RB1c.2212-13_2212-12insA (n.2212-13_2212-12insA)
c.194+83542_194+83543insA
c.1951-13_1951-12insA (n.1951-13_1951-12insA)
 gnomAD v4
13g.48464986delCA609929437RB1c.2212-12del (n.2212-12del)
c.194+83543del
c.1951-12del (n.1951-12del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464986G>ACA034567RB1c.2212-12G>A (n.2212-12G>A)
c.194+83543G>A
c.1951-12G>A (n.1951-12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464986G>CCA609929436RB1c.2212-12G>C (n.2212-12G>C)
c.194+83543G>C
c.1951-12G>C (n.1951-12G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464986G=CA2090013867RB1c.2212-12G= (n.2212-12G=)
c.194+83543G=
c.1951-12G= (n.1951-12G=)
13g.48464986G>TCA034575RB1c.2212-12G>T (n.2212-12G>T)
c.194+83543G>T
c.1951-12G>T (n.1951-12G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464986_48464987insGTCA2622985672RB1c.2212-12_2212-11insGT (n.2212-12_2212-11insGT)
c.194+83543_194+83544insGT
c.1951-12_1951-11insGT (n.1951-12_1951-11insGT)
 gnomAD v4
13g.48464987_48464988dupCA2592873334RB1c.2212-11_2212-10dup (n.2212-11_2212-10dup)
c.194+83544_194+83545dup
c.1951-11_1951-10dup (n.1951-11_1951-10dup)
 gnomAD v3 gnomAD v4
13g.48464988T>CCA2697551857RB1c.2212-10T>C (n.2212-10T>C)
c.194+83545T>C
c.1951-10T>C (n.1951-10T>C)
 ClinVar dbSNP
13g.48464988T>GCA2697551856RB1c.2212-10T>G (n.2212-10T>G)
c.194+83545T>G
c.1951-10T>G (n.1951-10T>G)
 ClinVar
13g.48464989C>ACA915948571RB1c.2212-9C>A (n.2212-9C>A)
c.194+83546C>A
c.1951-9C>A (n.1951-9C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464989C=CA2090013871RB1c.2212-9C= (n.2212-9C=)
c.194+83546C=
c.1951-9C= (n.1951-9C=)
13g.48464989C>GCA955794133RB1c.2212-9C>G (n.2212-9C>G)
c.194+83546C>G
c.1951-9C>G (n.1951-9C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464989C>TCA034829RB1c.2212-9C>T (n.2212-9C>T)
c.194+83546C>T
c.1951-9C>T (n.1951-9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48464990T>ACA2622985673RB1c.2212-8T>A (n.2212-8T>A)
c.194+83547T>A
c.1951-8T>A (n.1951-8T>A)
 gnomAD v4
13g.48464990T>CCA2499222456RB1c.2212-8T>C (n.2212-8T>C)
c.194+83547T>C
c.1951-8T>C (n.1951-8T>C)
 ClinVar dbSNP
13g.48464990T>GCA609929438RB1c.2212-8T>G (n.2212-8T>G)
c.194+83547T>G
c.1951-8T>G (n.1951-8T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464990T=CA2090013875RB1c.2212-8T= (n.2212-8T=)
c.194+83547T=
c.1951-8T= (n.1951-8T=)
13g.48464991_48464992insTTTCA2622985674RB1c.2212-7_2212-6insTTT (n.2212-7_2212-6insTTT)
c.194+83548_194+83549insTTT
c.1951-7_1951-6insTTT (n.1951-7_1951-6insTTT)
 gnomAD v4
13g.48464991_48464992insTTTTTCA2622985675RB1c.2212-7_2212-6insTTTTT (n.2212-7_2212-6insTTTTT)
c.194+83548_194+83549insTTTTT
c.1951-7_1951-6insTTTTT (n.1951-7_1951-6insTTTTT)
 gnomAD v4
13g.48465002_48465003insTATTCCTCAGACATTCA2622985676RB1c.2216_2217insTATTCCTCAGACATT
c.194+83559_194+83560insTATTCCTCAGACATT
c.1955_1956insTATTCCTCAGACATT
 gnomAD v4
13g.48464991T>ACA2622985677RB1c.2212-7T>A (n.2212-7T>A)
c.194+83548T>A
c.1951-7T>A (n.1951-7T>A)
 dbSNP gnomAD v4
13g.48464991T>GCA2728085182RB1c.2212-7T>G (n.2212-7T>G)
c.194+83548T>G
c.1951-7T>G (n.1951-7T>G)
 dbSNP
13g.48464991_48464993delinsTCCCA2090013876RB1c.2212-7_2212-5delinsTCC (n.2212-7_2212-5delinsTCC)
c.194+83548_194+83550delinsTCC
c.1951-7_1951-5delinsTCC (n.1951-7_1951-5delinsTCC)
13g.48464991_48465000delinsTCCTCAGACACA2090013877RB1c.2212-7_2214delinsTCCTCAGACA
c.194+83548_194+83557delinsTCCTCAGACA
c.1951-7_1953delinsTCCTCAGACA
13g.48464991_48465010delinsTCCTCAGACATTCAAACGTGCA2090013878RB1c.2212-7_2224delinsTCCTCAGACATTCAAACGTG
c.194+83548_194+83567delinsTCCTCAGACATTCAAACGTG
c.1951-7_1963delinsTCCTCAGACATTCAAACGTG
13g.48464991_48464992insTTTTCCA2622985680RB1c.2212-7_2212-6insTTTTC (n.2212-7_2212-6insTTTTC)
c.194+83548_194+83549insTTTTC
c.1951-7_1951-6insTTTTC (n.1951-7_1951-6insTTTTC)
 gnomAD v4
13g.48464991_48464992insTTTTTTTTTTTTTTTCCCA2622985678RB1c.2212-7_2212-6insTTTTTTTTTTTTTTTCC (n.2212-7_2212-6insTTTTTTTTTTTTTTTCC)
c.194+83548_194+83549insTTTTTTTTTTTTTTTCC
c.1951-7_1951-6insTTTTTTTTTTTTTTTCC (n.1951-7_1951-6insTTTTTTTTTTTTTTTCC)
 gnomAD v4
13g.48464992C>ACA955794139RB1c.2212-6C>A (n.2212-6C>A)
c.194+83549C>A
c.1951-6C>A (n.1951-6C>A)
 gnomAD v3 gnomAD v4
13g.48464992C=CA2090013889RB1c.2212-6C= (n.2212-6C=)
c.194+83549C=
c.1951-6C= (n.1951-6C=)
13g.48464992C>GCA2727841031RB1c.2212-6C>G (n.2212-6C>G)
c.194+83549C>G
c.1951-6C>G (n.1951-6C>G)
 dbSNP
13g.48464992C>TCA034817RB1c.2212-6C>T (n.2212-6C>T)
c.194+83549C>T
c.1951-6C>T (n.1951-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.48464992_48464993delCA609929440RB1c.2212-6_2212-5del (n.2212-6_2212-5del)
c.194+83549_194+83550del
c.1951-6_1951-5del (n.1951-6_1951-5del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464992_48464997delCA2622985679RB1c.2212-6_2212-1del (n.2212-6_2212-1del)
c.194+83549_194+83554del
c.1951-6_1951-1del (n.1951-6_1951-1del)
 gnomAD v4
13g.48464992_48465000delCA609929439RB1c.2212-6_2214del
c.194+83549_194+83557del
c.1951-6_1953del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464992_48465010delCA609929441RB1c.2212-6_2224del
c.194+83549_194+83567del
c.1951-6_1963del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464992_48464993insTCA2505140551RB1c.2212-6_2212-5insT (n.2212-6_2212-5insT)
c.194+83549_194+83550insT
c.1951-6_1951-5insT (n.1951-6_1951-5insT)
 gnomAD v4
13g.48464993C>ACA955794146RB1c.2212-5C>A (n.2212-5C>A)
c.194+83550C>A
c.1951-5C>A (n.1951-5C>A)
 dbSNP gnomAD v3 gnomAD v4
13g.48464993C=CA2090013897RB1c.2212-5C= (n.2212-5C=)
c.194+83550C=
c.1951-5C= (n.1951-5C=)
13g.48464993C>TCA609929442RB1c.2212-5C>T (n.2212-5C>T)
c.194+83550C>T
c.1951-5C>T (n.1951-5C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464994T>ACA955794153RB1c.2212-4T>A (n.2212-4T>A)
c.194+83551T>A
c.1951-4T>A (n.1951-4T>A)
 gnomAD v3 gnomAD v4
13g.48464994T>CCA955794150RB1c.2212-4T>C (n.2212-4T>C)
c.194+83551T>C
c.1951-4T>C (n.1951-4T>C)
 dbSNP gnomAD v3 gnomAD v4
13g.48464994T>GCA2575413788RB1c.2212-4T>G (n.2212-4T>G)
c.194+83551T>G
c.1951-4T>G (n.1951-4T>G)
 gnomAD v4
13g.48464994_48464995insTTTTTCA609929443RB1c.2212-4_2212-3insTTTTT (n.2212-4_2212-3insTTTTT)
c.194+83551_194+83552insTTTTT
c.1951-4_1951-3insTTTTT (n.1951-4_1951-3insTTTTT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464994_48464995insTTTTTTCA609929444RB1c.2212-4_2212-3insTTTTTT (n.2212-4_2212-3insTTTTTT)
c.194+83551_194+83552insTTTTTT
c.1951-4_1951-3insTTTTTT (n.1951-4_1951-3insTTTTTT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464994_48464995insTTTTTTTCA609929445RB1c.2212-4_2212-3insTTTTTTT (n.2212-4_2212-3insTTTTTTT)
c.194+83551_194+83552insTTTTTTT
c.1951-4_1951-3insTTTTTTT (n.1951-4_1951-3insTTTTTTT)
 gnomAD v2
13g.48464994_48464995insTTTTTTTTTTTTTTTTTTTTTTTTCA955794157RB1c.2212-4_2212-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.2212-4_2212-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.194+83551_194+83552insTTTTTTTTTTTTTTTTTTTTTTTT
c.1951-4_1951-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.1951-4_1951-3insTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v3 gnomAD v4
13g.48464994_48465000delinsTCAGACACA2090013904RB1c.2212-4_2214delinsTCAGACA
c.194+83551_194+83557delinsTCAGACA
c.1951-4_1953delinsTCAGACA
13g.48464995C>ACA2559078780RB1c.2212-3C>A (n.2212-3C>A)
c.194+83552C>A
c.1951-3C>A (n.1951-3C>A)
 ClinVar gnomAD v3 gnomAD v4
13g.48464995C>GCA2580087665RB1c.2212-3C>G (n.2212-3C>G)
c.194+83552C>G
c.1951-3C>G (n.1951-3C>G)
 ClinVar dbSNP
13g.48464995C>TCA955794164RB1c.2212-3C>T (n.2212-3C>T)
c.194+83552C>T
c.1951-3C>T (n.1951-3C>T)
 dbSNP gnomAD v3 gnomAD v4
13g.48464995_48464999delCA2622985681RB1c.2212-3_2213del
c.194+83552_194+83556del
c.1951-3_1952del
 gnomAD v4
13g.48464995_48465000delCA609929446RB1c.2212-3_2214del
c.194+83552_194+83557del
c.1951-3_1953del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48464996A>CCA388167439RB1c.2212-2A>C (n.2212-2A>C)
c.194+83553A>C
c.1951-2A>C (n.1951-2A>C)
13g.48464996A>GCA388167440RB1c.2212-2A>G (n.2212-2A>G)
c.194+83553A>G
c.1951-2A>G (n.1951-2A>G)
 dbSNP gnomAD v4
13g.48464996A>TCA388167442RB1c.2212-2A>T (n.2212-2A>T)
c.194+83553A>T
c.1951-2A>T (n.1951-2A>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.48464996_48465000delCA2799108491RB1c.2212-2_2214del
c.194+83553_194+83557del
c.1951-2_1953del
13g.48464999_48465023delCA2499222457RB1c.2213_2237del
c.194+83556_194+83580del
c.1952_1976del
 ClinVar dbSNP
13g.48464997G>ACA026432RB1c.2212-1G>A (n.2212-1G>A)
c.194+83554G>A
c.1951-1G>A (n.1951-1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.48464997G>CCA388167444RB1c.2212-1G>C (n.2212-1G>C)
c.194+83554G>C
c.1951-1G>C (n.1951-1G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464997G=CA2090013913RB1c.2212-1G= (n.2212-1G=)
c.194+83554G=
c.1951-1G= (n.1951-1G=)
13g.48464997G>TCA388167446RB1c.2212-1G>T (n.2212-1G>T)
c.194+83554G>T
c.1951-1G>T (n.1951-1G>T)
 dbSNP gnomAD v3 gnomAD v4
13g.48464998_48465111delCA645571632RB1c.2212_2325del
c.194+83555_194+83668del
c.1951_2064del
 COSMIC
13g.48464998A=CA2090013920RB1c.2212A= (p.Thr738=)
c.194+83555A=
c.1951A= (p.Thr651=)
13g.48464998A>CCA388167447RB1c.2212A>C (p.Thr738Pro)
c.194+83555A>C
c.1951A>C (p.Thr651Pro)
 dbSNP
13g.48464998A>GCA388167448RB1c.2212A>G (p.Thr738Ala)
c.194+83555A>G
c.1951A>G (p.Thr651Ala)
 dbSNP gnomAD v3 gnomAD v4
13g.48464998A>TCA388167450RB1c.2212A>T (p.Thr738Ser)
c.194+83555A>T
c.1951A>T (p.Thr651Ser)
 dbSNP
13g.48464999C>ACA388167455RB1c.2213C>A (p.Thr738Lys)
c.194+83556C>A
c.1952C>A (p.Thr651Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48464999C=CA2090013922RB1c.2213C= (p.Thr738=)
c.194+83556C=
c.1952C= (p.Thr651=)
13g.48464999C>GCA388167452RB1c.2213C>G (p.Thr738Arg)
c.194+83556C>G
c.1952C>G (p.Thr651Arg)
 dbSNP
13g.48464999C>TCA388167453RB1c.2213C>T (p.Thr738Ile)
c.194+83556C>T
c.1952C>T (p.Thr651Ile)
 dbSNP
13g.48465000A=CA2090013928RB1c.2214A= (p.Thr738=)
c.194+83557A=
c.1953A= (p.Thr651=)
13g.48465000A>CCA483740037RB1c.2214A>C (p.Thr738=)
c.194+83557A>C
c.1953A>C (p.Thr651=)
13g.48465000A>GCA483740038RB1c.2214A>G (p.Thr738=)
c.194+83557A>G
c.1953A>G (p.Thr651=)
 COSMIC COSMIC
13g.48465000A>TCA483740039RB1c.2214A>T (p.Thr738=)
c.194+83557A>T
c.1953A>T (p.Thr651=)
 dbSNP gnomAD v3 gnomAD v4
13g.48465000dupCA2695218598RB1c.2214dup (p.Phe739IlefsTer12)
c.194+83557dup
c.1953dup (p.Phe652IlefsTer12)
13g.48465001_48465006delCA2695218597RB1c.2215_2220del (p.Phe739_Lys740del)
c.194+83558_194+83563del
c.1954_1959del (p.Phe652_Lys653del)
13g.48465001T>ACA388167457RB1c.2215T>A (p.Phe739Ile)
c.194+83558T>A
c.1954T>A (p.Phe652Ile)
13g.48465001T>CCA388167458RB1c.2215T>C (p.Phe739Leu)
c.194+83558T>C
c.1954T>C (p.Phe652Leu)
13g.48465001T>GCA388167460RB1c.2215T>G (p.Phe739Val)
c.194+83558T>G
c.1954T>G (p.Phe652Val)
13g.48465002_48465003insTTTTTTTTTTTTTCA609929447RB1c.2216_2217insTTTTTTTTTTTTT (p.Lys740PhefsTer15)
c.194+83559_194+83560insTTTTTTTTTTTTT
c.1955_1956insTTTTTTTTTTTTT (p.Lys653PhefsTer15)
 dbSNP gnomAD v2
13g.48465002T>ACA388167462RB1c.2216T>A (p.Phe739Tyr)
c.194+83559T>A
c.1955T>A (p.Phe652Tyr)
 gnomAD v4
13g.48465002T>CCA388167463RB1c.2216T>C (p.Phe739Ser)
c.194+83559T>C
c.1955T>C (p.Phe652Ser)
 dbSNP
13g.48465002T>GCA388167465RB1c.2216T>G (p.Phe739Cys)
c.194+83559T>G
c.1955T>G (p.Phe652Cys)
13g.48465003C>ACA388167466RB1c.2217C>A (p.Phe739Leu)
c.194+83560C>A
c.1956C>A (p.Phe652Leu)
 dbSNP gnomAD v3 gnomAD v4
13g.48465003C=CA2090013938RB1c.2217C= (p.Phe739=)
c.194+83560C=
c.1956C= (p.Phe652=)
13g.48465003C>GCA388167468RB1c.2217C>G (p.Phe739Leu)
c.194+83560C>G
c.1956C>G (p.Phe652Leu)
 dbSNP
13g.48465003C>TCA483740044RB1c.2217C>T (p.Phe739=)
c.194+83560C>T
c.1956C>T (p.Phe652=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48465003_48465008delCA955794188RB1c.2217_2222del (p.Lys740_Arg741del)
c.194+83560_194+83565del
c.1956_1961del (p.Lys653_Arg654del)
 gnomAD v3 gnomAD v4
13g.48465003_48465008delinsCAAACGCA2090013936RB1c.2217_2222delinsCAAACG (p.Phe739=)
c.194+83560_194+83565delinsCAAACG
c.1956_1961delinsCAAACG (p.Phe652=)
13g.48465003_48465010delCA955794195RB1c.2217_2224del (p.Lys740PhefsTer8)
c.194+83560_194+83567del
c.1956_1963del (p.Lys653PhefsTer8)
 gnomAD v3 gnomAD v4
13g.48465004A>CCA388167469RB1c.2218A>C (p.Lys740Gln)
c.194+83561A>C
c.1957A>C (p.Lys653Gln)
13g.48465004A>GCA388167471RB1c.2218A>G (p.Lys740Glu)
c.194+83561A>G
c.1957A>G (p.Lys653Glu)
 ClinVar
13g.48465004A>TCA388167473RB1c.2218A>T (p.Lys740Ter)
c.194+83561A>T
c.1957A>T (p.Lys653Ter)
 dbSNP
13g.48465005_48465006delCA645571633RB1c.2219_2220del (p.Lys740ThrfsTer10)
c.194+83562_194+83563del
c.1958_1959del (p.Lys653ThrfsTer10)
 COSMIC COSMIC
13g.48465004_48465008delCA698685746RB1c.2218_2222del (p.Lys740CysfsTer9)
c.194+83561_194+83565del
c.1957_1961del (p.Lys653CysfsTer9)
 dbSNP gnomAD v3 gnomAD v4
13g.48465005A>CCA388167476RB1c.2219A>C (p.Lys740Thr)
c.194+83562A>C
c.1958A>C (p.Lys653Thr)
13g.48465005A>GCA388167478RB1c.2219A>G (p.Lys740Arg)
c.194+83562A>G
c.1958A>G (p.Lys653Arg)
 dbSNP
13g.48465005A>TCA388167475RB1c.2219A>T (p.Lys740Ile)
c.194+83562A>T
c.1958A>T (p.Lys653Ile)
 dbSNP
13g.48465005_48465008delinsAACGCA2090013947RB1c.2219_2222delinsAACG (p.Lys740=)
c.194+83562_194+83565delinsAACG
c.1958_1961delinsAACG (p.Lys653=)
13g.48465006A>CCA388167480RB1c.2220A>C (p.Lys740Asn)
c.194+83563A>C
c.1959A>C (p.Lys653Asn)
13g.48465006A>GCA483740050RB1c.2220A>G (p.Lys740=)
c.194+83563A>G
c.1959A>G (p.Lys653=)
13g.48465006A>TCA388167482RB1c.2220A>T (p.Lys740Asn)
c.194+83563A>T
c.1959A>T (p.Lys653Asn)
 dbSNP
13g.48465006_48465008delCA609929448RB1c.2220_2222del (p.Lys740_Arg741delinsAsn)
c.194+83563_194+83565del
c.1959_1961del (p.Lys653_Arg654delinsAsn)
 dbSNP gnomAD v2
13g.48465007C>ACA388167483RB1c.2221C>A (p.Arg741Ser)
c.194+83564C>A
c.1960C>A (p.Arg654Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.48465007C=CA2090013956RB1c.2221C= (p.Arg741=)
c.194+83564C=
c.1960C= (p.Arg654=)
13g.48465007C>GCA388167484RB1c.2221C>G (p.Arg741Gly)
c.194+83564C>G
c.1960C>G (p.Arg654Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48465007C>TCA034862RB1c.2221C>T (p.Arg741Cys)
c.194+83564C>T
c.1960C>T (p.Arg654Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48465008G>ACA034875RB1c.2222G>A (p.Arg741His)
c.194+83565G>A
c.1961G>A (p.Arg654His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.48465008G>CCA388167487RB1c.2222G>C (p.Arg741Pro)
c.194+83565G>C
c.1961G>C (p.Arg654Pro)
 dbSNP
13g.48465008G=CA2090013967RB1c.2222G= (p.Arg741=)
c.194+83565G=
c.1961G= (p.Arg654=)
13g.48465008G>TCA034898RB1c.2222G>T (p.Arg741Leu)
c.194+83565G>T
c.1961G>T (p.Arg654Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48465010_48465011delCA2695218601RB1c.2224_2225del (p.Val742PhefsTer8)
c.194+83567_194+83568del
c.1963_1964del (p.Val655PhefsTer8)
13g.48465009T>ACA483740053RB1c.2223T>A (p.Arg741=)
c.194+83566T>A
c.1962T>A (p.Arg654=)
 dbSNP
13g.48465009T>CCA483740054RB1c.2223T>C (p.Arg741=)
c.194+83566T>C
c.1962T>C (p.Arg654=)
13g.48465009T>GCA483740055RB1c.2223T>G (p.Arg741=)
c.194+83566T>G
c.1962T>G (p.Arg654=)
 dbSNP gnomAD v3 gnomAD v4
13g.48465009T=CA2090013973RB1c.2223T= (p.Arg741=)
c.194+83566T=
c.1962T= (p.Arg654=)
13g.48465009_48465010insTTTTTCA609929449RB1c.2223_2224insTTTTT (p.Val742PhefsTer4)
c.194+83566_194+83567insTTTTT
c.1962_1963insTTTTT (p.Val655PhefsTer4)
 dbSNP gnomAD v2
13g.48465010G>ACA388167489RB1c.2224G>A (p.Val742Ile)
c.194+83567G>A
c.1963G>A (p.Val655Ile)
13g.48465010G>CCA16614063RB1c.2224G>C (p.Val742Leu)
c.194+83567G>C
c.1963G>C (p.Val655Leu)
 ClinVar dbSNP
13g.48465010G=CA2090013978RB1c.2224G= (p.Val742=)
c.194+83567G=
c.1963G= (p.Val655=)
13g.48465010G>TCA388167491RB1c.2224G>T (p.Val742Phe)
c.194+83567G>T
c.1963G>T (p.Val655Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48465010_48465012delinsATGCA645571634RB1c.2224_2226delinsATG (p.Val742Met)
c.194+83567_194+83569delinsATG
c.1963_1965delinsATG (p.Val655Met)
 COSMIC COSMIC
13g.48465011T>ACA388167493RB1c.2225T>A (p.Val742Asp)
c.194+83568T>A
c.1964T>A (p.Val655Asp)
13g.48465011T>CCA388167494RB1c.2225T>C (p.Val742Ala)
c.194+83568T>C
c.1964T>C (p.Val655Ala)
 dbSNP
13g.48465011T>GCA388167495RB1c.2225T>G (p.Val742Gly)
c.194+83568T>G
c.1964T>G (p.Val655Gly)
13g.48465014delCA645571635RB1c.2228del (p.Leu743Ter)
c.194+83571del
c.1967del (p.Leu656Ter)
 COSMIC COSMIC
13g.48465012T>ACA483740058RB1c.2226T>A (p.Val742=)
c.194+83569T>A
c.1965T>A (p.Val655=)
13g.48465012T>CCA483740059RB1c.2226T>C (p.Val742=)
c.194+83569T>C
c.1965T>C (p.Val655=)
13g.48465012T>GCA034920RB1c.2226T>G (p.Val742=)
c.194+83569T>G
c.1965T>G (p.Val655=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48465012T=CA2090013980RB1c.2226T= (p.Val742=)
c.194+83569T=
c.1965T= (p.Val655=)
13g.48465013T>ACA388167497RB1c.2227T>A (p.Leu743Met)
c.194+83570T>A
c.1966T>A (p.Leu656Met)
13g.48465013T>CCA483740060RB1c.2227T>C (p.Leu743=)
c.194+83570T>C
c.1966T>C (p.Leu656=)
13g.48465013T>GCA388167499RB1c.2227T>G (p.Leu743Val)
c.194+83570T>G
c.1966T>G (p.Leu656Val)
13g.48465014_48465017dupCA269694RB1c.2228_2231dup (p.Lys745AspfsTer7)
c.194+83571_194+83574dup
c.1967_1970dup (p.Lys658AspfsTer7)
 ClinVar dbSNP
13g.48465014T>ACA388167501RB1c.2228T>A (p.Leu743Ter)
c.194+83571T>A
c.1967T>A (p.Leu656Ter)
13g.48465014T>CCA388167503RB1c.2228T>C (p.Leu743Ser)
c.194+83571T>C
c.1967T>C (p.Leu656Ser)
 ClinVar dbSNP gnomAD v4
13g.48465014T>GCA388167504RB1c.2228T>G (p.Leu743Trp)
c.194+83571T>G
c.1967T>G (p.Leu656Trp)
13g.48465014_48465024delCA645571636RB1c.2228_2238del (p.Leu743Ter)
c.194+83571_194+83581del
c.1967_1977del (p.Leu656Ter)
 COSMIC
13g.48465015G>ACA483740064RB1c.2229G>A (p.Leu743=)
c.194+83572G>A
c.1968G>A (p.Leu656=)
 dbSNP
13g.48465015G>CCA388167506RB1c.2229G>C (p.Leu743Phe)
c.194+83572G>C
c.1968G>C (p.Leu656Phe)
 dbSNP
13g.48465015G=CA2090013984RB1c.2229G= (p.Leu743=)
c.194+83572G=
c.1968G= (p.Leu656=)
13g.48465015G>TCA388167508RB1c.2229G>T (p.Leu743Phe)
c.194+83572G>T
c.1968G>T (p.Leu656Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48465016A=CA2090013985RB1c.2230A= (p.Ile744=)
c.194+83573A=
c.1969A= (p.Ile657=)
13g.48465016A>CCA388167509RB1c.2230A>C (p.Ile744Leu)
c.194+83573A>C
c.1969A>C (p.Ile657Leu)
13g.48465016A>GCA388167510RB1c.2230A>G (p.Ile744Val)
c.194+83573A>G
c.1969A>G (p.Ile657Val)
 dbSNP gnomAD v2 gnomAD v4
13g.48465016A>TCA388167512RB1c.2230A>T (p.Ile744Phe)
c.194+83573A>T
c.1969A>T (p.Ile657Phe)
 dbSNP gnomAD v3 gnomAD v4
13g.48465017T>ACA388167514RB1c.2231T>A (p.Ile744Asn)
c.194+83574T>A
c.1970T>A (p.Ile657Asn)
 dbSNP
13g.48465017T>CCA388167516RB1c.2231T>C (p.Ile744Thr)
c.194+83574T>C
c.1970T>C (p.Ile657Thr)
 dbSNP
13g.48465017T>GCA388167517RB1c.2231T>G (p.Ile744Ser)
c.194+83574T>G
c.1970T>G (p.Ile657Ser)
 ClinVar
13g.48465018C>ACA483740069RB1c.2232C>A (p.Ile744=)
c.194+83575C>A
c.1971C>A (p.Ile657=)
 ClinVar gnomAD v4
13g.48465018C>GCA388167519RB1c.2232C>G (p.Ile744Met)
c.194+83575C>G
c.1971C>G (p.Ile657Met)
 ClinVar
13g.48465018C>TCA483740070RB1c.2232C>T (p.Ile744=)
c.194+83575C>T
c.1971C>T (p.Ile657=)
13g.48465019A>CCA388167524RB1c.2233A>C (p.Lys745Gln)
c.194+83576A>C
c.1972A>C (p.Lys658Gln)
13g.48465019A>GCA388167521RB1c.2233A>G (p.Lys745Glu)
c.194+83576A>G
c.1972A>G (p.Lys658Glu)
 ClinVar gnomAD v4
13g.48465019A>TCA388167523RB1c.2233A>T (p.Lys745Ter)
c.194+83576A>T
c.1972A>T (p.Lys658Ter)
 dbSNP COSMIC COSMIC
13g.48465019_48465022delinsAAAGCA2090013988RB1c.2233_2236delinsAAAG (p.Lys745=)
c.194+83576_194+83579delinsAAAG
c.1972_1975delinsAAAG (p.Lys658=)
13g.48465020A>CCA388167525RB1c.2234A>C (p.Lys745Thr)
c.194+83577A>C
c.1973A>C (p.Lys658Thr)
13g.48465020A>GCA388167527RB1c.2234A>G (p.Lys745Arg)
c.194+83577A>G
c.1973A>G (p.Lys658Arg)
 ClinVar
13g.48465020A>TCA388167529RB1c.2234A>T (p.Lys745Ile)
c.194+83577A>T
c.1973A>T (p.Lys658Ile)
 dbSNP COSMIC
13g.48465024_48465026delCA609929450RB1c.2238_2240del (p.Glu747del)
c.194+83581_194+83583del
c.1977_1979del (p.Glu660del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48465021A=CA2090013990RB1c.2235A= (p.Lys745=)
c.194+83578A=
c.1974A= (p.Lys658=)
13g.48465021A>CCA388167531RB1c.2235A>C (p.Lys745Asn)
c.194+83578A>C
c.1974A>C (p.Lys658Asn)
13g.48465021A>GCA483740075RB1c.2235A>G (p.Lys745=)
c.194+83578A>G
c.1974A>G (p.Lys658=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48465021A>TCA388167532RB1c.2235A>T (p.Lys745Asn)
c.194+83578A>T
c.1974A>T (p.Lys658Asn)
 dbSNP
13g.48465022_48465023delCA2695218604RB1c.2236_2237del (p.Glu746ArgfsTer4)
c.194+83579_194+83580del
c.1975_1976del (p.Glu659ArgfsTer4)
13g.48465023_48465027delCA1139771734RB1c.2237_2241del (p.Glu746GlyfsTer3)
c.194+83580_194+83584del
c.1976_1980del (p.Glu659GlyfsTer3)
 ClinVar dbSNP
13g.48465022G>ACA388167534RB1c.2236G>A (p.Glu746Lys)
c.194+83579G>A
c.1975G>A (p.Glu659Lys)
 dbSNP
13g.48465022G>CCA249310350RB1c.2236G>C (p.Glu746Gln)
c.194+83579G>C
c.1975G>C (p.Glu659Gln)
 ClinVar dbSNP gnomAD v4
13g.48465022G=CA2090013992RB1c.2236G= (p.Glu746=)
c.194+83579G=
c.1975G= (p.Glu659=)
13g.48465022G>TCA388167533RB1c.2236G>T (p.Glu746Ter)
c.194+83579G>T
c.1975G>T (p.Glu659Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.48465022_48465023delinsGACA2090013994RB1c.2236_2237delinsGA (p.Glu746=)
c.194+83579_194+83580delinsGA
c.1975_1976delinsGA (p.Glu659=)
13g.48465022_48465028dupCA2695218607RB1c.2236_2242dup (p.Glu748GlyfsTer5)
c.194+83579_194+83585dup
c.1975_1981dup (p.Glu661GlyfsTer5)
13g.48465024_48465029delCA2695218606RB1c.2238_2243del (p.Glu747_Glu748del)
c.194+83581_194+83586del
c.1977_1982del (p.Glu660_Glu661del)
13g.48465023A=CA2018068534RB1c.2237A= (p.Glu746=)
c.194+83580A=
c.1976A= (p.Glu659=)
13g.48465023A>CCA388167535RB1c.2237A>C (p.Glu746Ala)
c.194+83580A>C
c.1976A>C (p.Glu659Ala)
13g.48465023A>GCA249310355RB1c.2237A>G (p.Glu746Gly)
c.194+83580A>G
c.1976A>G (p.Glu659Gly)
 ClinVar dbSNP
13g.48465023A>TCA388167536RB1c.2237A>T (p.Glu746Val)
c.194+83580A>T
c.1976A>T (p.Glu659Val)
 dbSNP
13g.48465024delCA1139663290RB1c.2238del (p.Glu747ArgfsTer7)
c.194+83581del
c.1977del (p.Glu660ArgfsTer7)
 ClinVar dbSNP
13g.48465024A=CA2090013997RB1c.2238A= (p.Glu746=)
c.194+83581A=
c.1977A= (p.Glu659=)
13g.48465024A>CCA388167537RB1c.2238A>C (p.Glu746Asp)
c.194+83581A>C
c.1977A>C (p.Glu659Asp)
13g.48465024A>GCA249310358RB1c.2238A>G (p.Glu746=)
c.194+83581A>G
c.1977A>G (p.Glu659=)
 ClinVar dbSNP gnomAD v4
13g.48465024A>TCA388167538RB1c.2238A>T (p.Glu746Asp)
c.194+83581A>T
c.1977A>T (p.Glu659Asp)
 dbSNP
13g.48465026_48465027delCA645571637RB1c.2240_2241del (p.Glu747GlyfsTer3)
c.194+83583_194+83584del
c.1979_1980del (p.Glu660GlyfsTer3)
 COSMIC
13g.48465025G>ACA388167539RB1c.2239G>A (p.Glu747Lys)
c.194+83582G>A
c.1978G>A (p.Glu660Lys)
 ClinVar dbSNP gnomAD v4
13g.48465025G>CCA388167541RB1c.2239G>C (p.Glu747Gln)
c.194+83582G>C
c.1978G>C (p.Glu660Gln)
 dbSNP
13g.48465025G=CA2090013998RB1c.2239G= (p.Glu747=)
c.194+83582G=
c.1978G= (p.Glu660=)
13g.48465025G>TCA388167540RB1c.2239G>T (p.Glu747Ter)
c.194+83582G>T
c.1978G>T (p.Glu660Ter)
 dbSNP COSMIC
13g.48465025dupCA2695218608RB1c.2239dup (p.Glu747GlyfsTer4)
c.194+83582dup
c.1978dup (p.Glu660GlyfsTer4)
13g.48465025_48465028dupCA2695218609RB1c.2239_2242dup (p.Glu748GlyfsTer4)
c.194+83582_194+83585dup
c.1978_1981dup (p.Glu661GlyfsTer4)
13g.48465028_48465030delCA2575413789RB1c.2242_2244del (p.Glu748del)
c.194+83585_194+83587del
c.1981_1983del (p.Glu661del)
 ClinVar dbSNP gnomAD v4
13g.48465026A=CA2090014000RB1c.2240A= (p.Glu747=)
c.194+83583A=
c.1979A= (p.Glu660=)
13g.48465026A>CCA034948RB1c.2240A>C (p.Glu747Ala)
c.194+83583A>C
c.1979A>C (p.Glu660Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48465026A>GCA388167542RB1c.2240A>G (p.Glu747Gly)
c.194+83583A>G
c.1979A>G (p.Glu660Gly)
 dbSNP
13g.48465026A>TCA388167543RB1c.2240A>T (p.Glu747Val)
c.194+83583A>T
c.1979A>T (p.Glu660Val)
 dbSNP
13g.48465027G>ACA483740082RB1c.2241G>A (p.Glu747=)
c.194+83584G>A
c.1980G>A (p.Glu660=)
 ClinVar dbSNP gnomAD v4
13g.48465027G>CCA388167544RB1c.2241G>C (p.Glu747Asp)
c.194+83584G>C
c.1980G>C (p.Glu660Asp)
 ClinVar dbSNP
13g.48465027G=CA2090014002RB1c.2241G= (p.Glu747=)
c.194+83584G=
c.1980G= (p.Glu660=)
13g.48465027G>TCA034985RB1c.2241G>T (p.Glu747Asp)
c.194+83584G>T
c.1980G>T (p.Glu660Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48465028G>ACA388167545RB1c.2242G>A (p.Glu748Lys)
c.194+83585G>A
c.1981G>A (p.Glu661Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48465028G>CCA388167546RB1c.2242G>C (p.Glu748Gln)
c.194+83585G>C
c.1981G>C (p.Glu661Gln)
 dbSNP
13g.48465028G=CA2090014005RB1c.2242G= (p.Glu748=)
c.194+83585G=
c.1981G= (p.Glu661=)
13g.48465028G>TCA026433RB1c.2242G>T (p.Glu748Ter)
c.194+83585G>T
c.1981G>T (p.Glu661Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.48465029A>CCA388167547RB1c.2243A>C (p.Glu748Ala)
c.194+83586A>C
c.1982A>C (p.Glu661Ala)
13g.48465029A>GCA388167548RB1c.2243A>G (p.Glu748Gly)
c.194+83586A>G
c.1982A>G (p.Glu661Gly)
13g.48465029A>TCA388167549RB1c.2243A>T (p.Glu748Val)
c.194+83586A>T
c.1982A>T (p.Glu661Val)
 dbSNP
13g.48465029_48465030delinsAGCA2090014007RB1c.2243_2244delinsAG (p.Glu748=)
c.194+83586_194+83587delinsAG
c.1982_1983delinsAG (p.Glu661=)
13g.48465030delCA026434RB1c.2244del (p.Glu748AspfsTer6)
c.194+83587del
c.1983del (p.Glu661AspfsTer6)
 ClinVar dbSNP COSMIC COSMIC
13g.48465030G>ACA483740087RB1c.2244G>A (p.Glu748=)
c.194+83587G>A
c.1983G>A (p.Glu661=)
 ClinVar dbSNP gnomAD v4
13g.48465030G>CCA388167550RB1c.2244G>C (p.Glu748Asp)
c.194+83587G>C
c.1983G>C (p.Glu661Asp)
 ClinVar dbSNP
13g.48465030G=CA2090014009RB1c.2244G= (p.Glu748=)
c.194+83587G=
c.1983G= (p.Glu661=)
13g.48465030G>TCA388167551RB1c.2244G>T (p.Glu748Asp)
c.194+83587G>T
c.1983G>T (p.Glu661Asp)
 dbSNP
13g.48465030_48465032delinsGTACA2090014010RB1c.2244_2246delinsGTA (p.Glu748=)
c.194+83587_194+83589delinsGTA
c.1983_1985delinsGTA (p.Glu661=)
13g.48465031T>ACA388167552RB1c.2245T>A (p.Tyr749Asn)
c.194+83588T>A
c.1984T>A (p.Tyr662Asn)
 dbSNP
13g.48465031T>CCA388167553RB1c.2245T>C (p.Tyr749His)
c.194+83588T>C
c.1984T>C (p.Tyr662His)
 ClinVar
13g.48465031T>GCA388167554RB1c.2245T>G (p.Tyr749Asp)
c.194+83588T>G
c.1984T>G (p.Tyr662Asp)
 dbSNP
13g.48465032_48465033delCA1139663291RB1c.2246_2247del (p.Tyr749Ter)
c.194+83589_194+83590del
c.1985_1986del (p.Tyr662Ter)
 ClinVar dbSNP
13g.48465032A=CA2090014011RB1c.2246A= (p.Tyr749=)
c.194+83589A=
c.1985A= (p.Tyr662=)
13g.48465032A>CCA388167555RB1c.2246A>C (p.Tyr749Ser)
c.194+83589A>C
c.1985A>C (p.Tyr662Ser)
 ClinVar
13g.48465032A>GCA388167556RB1c.2246A>G (p.Tyr749Cys)
c.194+83589A>G
c.1985A>G (p.Tyr662Cys)
 ClinVar dbSNP gnomAD v4
13g.48465032A>TCA388167557RB1c.2246A>T (p.Tyr749Phe)
c.194+83589A>T
c.1985A>T (p.Tyr662Phe)
 dbSNP
13g.48465033T>ACA026435RB1c.2247T>A (p.Tyr749Ter)
c.194+83590T>A
c.1986T>A (p.Tyr662Ter)
 ClinVar dbSNP
13g.48465033T>CCA034996RB1c.2247T>C (p.Tyr749=)
c.194+83590T>C
c.1986T>C (p.Tyr662=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48465033T>GCA388167558RB1c.2247T>G (p.Tyr749Ter)
c.194+83590T>G
c.1986T>G (p.Tyr662Ter)
 COSMIC COSMIC
13g.48465033T=CA2090014014RB1c.2247T= (p.Tyr749=)
c.194+83590T=
c.1986T= (p.Tyr662=)
13g.48465033_48465034insAACA658798152RB1c.2247_2248insAA (p.Asp750LysfsTer5)
c.194+83590_194+83591insAA
c.1986_1987insAA (p.Asp663LysfsTer5)
 ClinVar dbSNP
13g.48465034G>ACA388167559RB1c.2248G>A (p.Asp750Asn)
c.194+83591G>A
c.1987G>A (p.Asp663Asn)
13g.48465034G>CCA388167560RB1c.2248G>C (p.Asp750His)
c.194+83591G>C
c.1987G>C (p.Asp663His)
13g.48465034G>TCA388167561RB1c.2248G>T (p.Asp750Tyr)
c.194+83591G>T
c.1987G>T (p.Asp663Tyr)
 ClinVar gnomAD v4
13g.48465034dupCA2695218614RB1c.2248dup (p.Asp750GlyfsTer8)
c.194+83591dup
c.1987dup (p.Asp663GlyfsTer8)
13g.48465035A>CCA388167564RB1c.2249A>C (p.Asp750Ala)
c.194+83592A>C
c.1988A>C (p.Asp663Ala)
13g.48465035A>GCA388167562RB1c.2249A>G (p.Asp750Gly)
c.194+83592A>G
c.1988A>G (p.Asp663Gly)
13g.48465035A>TCA388167563RB1c.2249A>T (p.Asp750Val)
c.194+83592A>T
c.1988A>T (p.Asp663Val)
 dbSNP
13g.48465035_48465036dupCA2695218617RB1c.2249_2250dup (p.Ser751IlefsTer4)
c.194+83592_194+83593dup
c.1988_1989dup (p.Ser664IlefsTer4)
13g.48465036T>ACA388167565RB1c.2250T>A (p.Asp750Glu)
c.194+83593T>A
c.1989T>A (p.Asp663Glu)
 dbSNP
13g.48465036T>CCA483740092RB1c.2250T>C (p.Asp750=)
c.194+83593T>C
c.1989T>C (p.Asp663=)
 gnomAD v4
13g.48465036T>GCA388167566RB1c.2250T>G (p.Asp750Glu)
c.194+83593T>G
c.1989T>G (p.Asp663Glu)
13g.48465037delCA2695218618RB1c.2251del (p.Ser751LeufsTer3)
c.194+83594del
c.1990del (p.Ser664LeufsTer3)
13g.48465037T>ACA388167567RB1c.2251T>A (p.Ser751Thr)
c.194+83594T>A
c.1990T>A (p.Ser664Thr)
13g.48465037T>CCA388167568RB1c.2251T>C (p.Ser751Pro)
c.194+83594T>C
c.1990T>C (p.Ser664Pro)
13g.48465037T>GCA388167569RB1c.2251T>G (p.Ser751Ala)
c.194+83594T>G
c.1990T>G (p.Ser664Ala)
13g.48465038C>ACA388167570RB1c.2252C>A (p.Ser751Tyr)
c.194+83595C>A
c.1991C>A (p.Ser664Tyr)
 COSMIC COSMIC
13g.48465038C>GCA388167571RB1c.2252C>G (p.Ser751Cys)
c.194+83595C>G
c.1991C>G (p.Ser664Cys)
 dbSNP
13g.48465038C>TCA388167572RB1c.2252C>T (p.Ser751Phe)
c.194+83595C>T
c.1991C>T (p.Ser664Phe)
 dbSNP
13g.48465039delCA2695218620RB1c.2253del (p.Ile752LeufsTer2)
c.194+83596del
c.1992del (p.Ile665LeufsTer2)
13g.48465039T>ACA035011RB1c.2253T>A (p.Ser751=)
c.194+83596T>A
c.1992T>A (p.Ser664=)
 ClinVar dbSNP ExAC gnomAD v2
13g.48465039T>CCA483740098RB1c.2253T>C (p.Ser751=)
c.194+83596T>C
c.1992T>C (p.Ser664=)
 ClinVar dbSNP
13g.48465039T>GCA483740099RB1c.2253T>G (p.Ser751=)
c.194+83596T>G
c.1992T>G (p.Ser664=)
13g.48465039T=CA2090014018RB1c.2253T= (p.Ser751=)
c.194+83596T=
c.1992T= (p.Ser664=)
13g.48465040_48465041delCA2695218622RB1c.2254_2255del (p.Ile752TyrfsTer5)
c.194+83597_194+83598del
c.1993_1994del (p.Ile665TyrfsTer5)
13g.48465040A=CA2090014020RB1c.2254A= (p.Ile752=)
c.194+83597A=
c.1993A= (p.Ile665=)
13g.48465040A>CCA388167573RB1c.2254A>C (p.Ile752Leu)
c.194+83597A>C
c.1993A>C (p.Ile665Leu)
 ClinVar dbSNP
13g.48465040A>GCA388167574RB1c.2254A>G (p.Ile752Val)
c.194+83597A>G
c.1993A>G (p.Ile665Val)
 ClinVar dbSNP gnomAD v4
13g.48465040A>TCA388167575RB1c.2254A>T (p.Ile752Phe)
c.194+83597A>T
c.1993A>T (p.Ile665Phe)
13g.48465041T>ACA388167577RB1c.2255T>A (p.Ile752Asn)
c.194+83598T>A
c.1994T>A (p.Ile665Asn)
13g.48465041T>CCA388167578RB1c.2255T>C (p.Ile752Thr)
c.194+83598T>C
c.1994T>C (p.Ile665Thr)
 ClinVar gnomAD v4
13g.48465041T>GCA388167576RB1c.2255T>G (p.Ile752Ser)
c.194+83598T>G
c.1994T>G (p.Ile665Ser)
13g.48465042T>ACA483740104RB1c.2256T>A (p.Ile752=)
c.194+83599T>A
c.1995T>A (p.Ile665=)
13g.48465042T>CCA483740105RB1c.2256T>C (p.Ile752=)
c.194+83599T>C
c.1995T>C (p.Ile665=)
 dbSNP
13g.48465042T>GCA388167579RB1c.2256T>G (p.Ile752Met)
c.194+83599T>G
c.1995T>G (p.Ile665Met)
13g.48465044_48465045delCA2728086159RB1c.2258_2259del (p.Ile753SerfsTer4)
c.194+83601_194+83602del
c.1997_1998del (p.Ile666SerfsTer4)
 dbSNP
13g.48465043A>CCA388167581RB1c.2257A>C (p.Ile753Leu)
c.194+83600A>C
c.1996A>C (p.Ile666Leu)
13g.48465043A>GCA388167580RB1c.2257A>G (p.Ile753Val)
c.194+83600A>G
c.1996A>G (p.Ile666Val)
 COSMIC COSMIC
13g.48465043A>TCA388167582RB1c.2257A>T (p.Ile753Leu)
c.194+83600A>T
c.1996A>T (p.Ile666Leu)
 ClinVar dbSNP
13g.48465044T>ACA388167583RB1c.2258T>A (p.Ile753Lys)
c.194+83601T>A
c.1997T>A (p.Ile666Lys)
13g.48465044T>CCA388167585RB1c.2258T>C (p.Ile753Thr)
c.194+83601T>C
c.1997T>C (p.Ile666Thr)
 gnomAD v4
13g.48465044T>GCA388167584RB1c.2258T>G (p.Ile753Arg)
c.194+83601T>G
c.1997T>G (p.Ile666Arg)
13g.48465044dupCA645571638RB1c.2258dup (p.Val754SerfsTer4)
c.194+83601dup
c.1997dup (p.Val667SerfsTer4)
 COSMIC COSMIC
13g.48465045A=CA2090014021RB1c.2259A= (p.Ile753=)
c.194+83602A=
c.1998A= (p.Ile666=)
13g.48465045A>CCA483740111RB1c.2259A>C (p.Ile753=)
c.194+83602A>C
c.1998A>C (p.Ile666=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48465045A>GCA388167586RB1c.2259A>G (p.Ile753Met)
c.194+83602A>G
c.1998A>G (p.Ile666Met)
13g.48465045A>TCA483740110RB1c.2259A>T (p.Ile753=)
c.194+83602A>T
c.1998A>T (p.Ile666=)
 dbSNP
13g.48465045_48465046dupCA2695218623RB1c.2259_2260dup (p.Val754GlufsTer12)
c.194+83602_194+83603dup
c.1998_1999dup (p.Val667GlufsTer12)
13g.48465046G>ACA388167588RB1c.2260G>A (p.Val754Ile)
c.194+83603G>A
c.1999G>A (p.Val667Ile)
 dbSNP gnomAD v2 gnomAD v4
13g.48465046G>CCA026436RB1c.2260G>C (p.Val754Leu)
c.194+83603G>C
c.1999G>C (p.Val667Leu)
 ClinVar dbSNP gnomAD v4
13g.48465046G=CA2090014023RB1c.2260G= (p.Val754=)
c.194+83603G=
c.1999G= (p.Val667=)
13g.48465046G>TCA388167587RB1c.2260G>T (p.Val754Leu)
c.194+83603G>T
c.1999G>T (p.Val667Leu)
 dbSNP
13g.48465047T>ACA388167589RB1c.2261T>A (p.Val754Glu)
c.194+83604T>A
c.2000T>A (p.Val667Glu)
 dbSNP
13g.48465047T>CCA388167590RB1c.2261T>C (p.Val754Ala)
c.194+83604T>C
c.2000T>C (p.Val667Ala)
 ClinVar dbSNP
13g.48465047T>GCA388167591RB1c.2261T>G (p.Val754Gly)
c.194+83604T>G
c.2000T>G (p.Val667Gly)
 ClinVar COSMIC
13g.48465048_48465049delCA2695218624RB1c.2262_2263del (p.Phe755LeufsTer2)
c.194+83605_194+83606del
c.2001_2002del (p.Phe668LeufsTer2)
13g.48465048A>CCA483740116RB1c.2262A>C (p.Val754=)
c.194+83605A>C
c.2001A>C (p.Val667=)
13g.48465048A>GCA483740117RB1c.2262A>G (p.Val754=)
c.194+83605A>G
c.2001A>G (p.Val667=)
 gnomAD v4
13g.48465048A>TCA483740118RB1c.2262A>T (p.Val754=)
c.194+83605A>T
c.2001A>T (p.Val667=)
 dbSNP
13g.48465049T>ACA388167592RB1c.2263T>A (p.Phe755Ile)
c.194+83606T>A
c.2002T>A (p.Phe668Ile)
 COSMIC COSMIC
13g.48465049T>CCA388167593RB1c.2263T>C (p.Phe755Leu)
c.194+83606T>C
c.2002T>C (p.Phe668Leu)
 gnomAD v4
13g.48465049T>GCA388167594RB1c.2263T>G (p.Phe755Val)
c.194+83606T>G
c.2002T>G (p.Phe668Val)
13g.48465050_48465052delCA2695218626RB1c.2264_2266del (p.Phe755del)
c.194+83607_194+83609del
c.2003_2005del (p.Phe668del)
13g.48465050T>ACA388167595RB1c.2264T>A (p.Phe755Tyr)
c.194+83607T>A
c.2003T>A (p.Phe668Tyr)
13g.48465050T>CCA388167596RB1c.2264T>C (p.Phe755Ser)
c.194+83607T>C
c.2003T>C (p.Phe668Ser)
 dbSNP
13g.48465050T>GCA388167597RB1c.2264T>G (p.Phe755Cys)
c.194+83607T>G
c.2003T>G (p.Phe668Cys)
13g.48465051C>ACA388167599RB1c.2265C>A (p.Phe755Leu)
c.194+83608C>A
c.2004C>A (p.Phe668Leu)
13g.48465051C>GCA388167598RB1c.2265C>G (p.Phe755Leu)
c.194+83608C>G
c.2004C>G (p.Phe668Leu)
 dbSNP
13g.48465051C>TCA483740119RB1c.2265C>T (p.Phe755=)
c.194+83608C>T
c.2004C>T (p.Phe668=)
 ClinVar dbSNP gnomAD v4
13g.48465053_48465058delCA2697551858RB1c.2267_2272del (p.Tyr756_Asn757del)
c.194+83610_194+83615del
c.2006_2011del (p.Tyr669_Asn670del)
 ClinVar
13g.48465051_48465222delCA2695218628RB1c.2265_2343del
c.194+83608_194+83779del
c.2004_2082del
13g.48465051_48465222delinsATCA2499226930RB1c.2265_2343delinsAT
c.194+83608_194+83779delinsAT
c.2004_2082delinsAT
13g.48465052delCA2580087676RB1c.2266del (p.Tyr756IlefsTer9)
c.194+83609del
c.2005del (p.Tyr669IlefsTer9)
 ClinVar
13g.48465052T>ACA388167600RB1c.2266T>A (p.Tyr756Asn)
c.194+83609T>A
c.2005T>A (p.Tyr669Asn)
13g.48465052T>CCA388167601RB1c.2266T>C (p.Tyr756His)
c.194+83609T>C
c.2005T>C (p.Tyr669His)
 dbSNP
13g.48465052T>GCA388167602RB1c.2266T>G (p.Tyr756Asp)
c.194+83609T>G
c.2005T>G (p.Tyr669Asp)
13g.48465053A>CCA388167603RB1c.2267A>C (p.Tyr756Ser)
c.194+83610A>C
c.2006A>C (p.Tyr669Ser)
 dbSNP
13g.48465053A>GCA388167604RB1c.2267A>G (p.Tyr756Cys)
c.194+83610A>G
c.2006A>G (p.Tyr669Cys)
 dbSNP
13g.48465053A>TCA388167605RB1c.2267A>T (p.Tyr756Phe)
c.194+83610A>T
c.2006A>T (p.Tyr669Phe)
 dbSNP

Number of alleles fetched